| PDB ID | 1TSR
|
CHAIN | A |
|---|---|---|---|
| Protein name | PROTEIN (P53 TUMOR SUPPRESSOR) | ||
| Uniprot Accession | P04637 | ||
| The number of similar proteins | 231 | ||
| The number of binding states | 11 | ||
| The number of binding partners | 9 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1TSR (CHAIN: A) | |
| 1 |
P04637
|
| 2 | Monomeric state |
| 3 |
4QO1
|
| 4 |
Q12888
|
| 5 |
Q07817
|
| 6 |
Q8WUF5
|
| 7 |
Q9DH70
|
| 8 |
P04637
P04637
|
| 9 |
P03126
P0AEX9
|
| 10 |
P04637
P00282
|
| 11 |
P04637
Q12888
|
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 94_SER | THR |
VAR_005859
- |
US | - | 0.1639 | Sporadic cancers | |
| 94_SER | LEU |
VAR_044642
- |
US | - | 0.418 | Sporadic cancers | |
| 94_SER | TER |
ClinVar chr17:7579406 - |
Pathogenic | - | - | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 95_SER | PHE |
VAR_044643
- |
US | - | 0.5749 | Sporadic cancers | |
| 95_SER | THR |
VAR_044644
- |
US | - | 0.208 | A sporadic cancer | |
| 96_SER | CYS |
VAR_044645
- |
US | - | 0.0735 | A sporadic cancer | |
| 96_SER | PHE |
VAR_044646
- |
US | - | 0.1005 | Sporadic cancers | |
| 96_SER | PRO |
VAR_044647
- |
US | - | 0.3417 | A sporadic cancer | |
| 97_VAL | ALA |
VAR_044648
- |
US | - | 0.9394 | A sporadic cancer | |
| 97_VAL | PHE |
VAR_044649
- |
US | - | 0.7555 | A sporadic cancer | |
| 97_VAL | ILE |
VAR_044650
rs730882023 |
US | - | 0.1238 | Familial cancer not matching LFS | |
| 98_PRO | LEU |
VAR_044651
rs1245723119 |
US | - | 0.9328 | Sporadic cancers | |
| 98_PRO | SER |
VAR_044652
- |
US | - | 0.9911 | Sporadic cancers | |
| 99_SER | PHE |
VAR_044653
- |
US | - | 0.7366 | Sporadic cancers | |
| 99_SER | PRO |
VAR_044654
- |
US | - | 0.4968 | A sporadic cancer | |
| 100_GLN | ARG |
VAR_044655
- |
US | - | 0.2143 | A sporadic cancer | |
| 100_GLN | TER |
ClinVar chr17:7579389 rs1567555994 |
Pathogenic/Likely pathogenic | - | - | Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Malignant tumor of urinary bladder [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980] | |
| 101_LYS | ASN |
VAR_044656
rs878854069 |
US | - | 0.2094 | A sporadic cancer | |
| 101_LYS | ARG |
VAR_044657
- |
US | - | 0.0904 | Sporadic cancers | |
| 102_THR | ILE |
VAR_044658
rs786202717 |
US | - | 0.1692 | Sporadic cancers | |
| 103_TYR | TER |
ClinVar chr17:7579378 rs1597373901 |
Pathogenic | - | - | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 103_TYR | TER |
ClinVar chr17:7579378 - |
Pathogenic | - | - | Li-Fraumeni syndrome|not provided [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900] | |
| 104_GLN | HIS |
VAR_044659
- |
US | - | 0.0754 | Sporadic cancers | |
| 104_GLN | LEU |
VAR_044660
- |
US | - | 0.097 | A sporadic cancer | |
| 104_GLN | TER |
ClinVar chr17:7579377 rs1567555934 |
Pathogenic | - | - | Li-Fraumeni syndrome|Neoplasm of ovary [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000] | |
| 105_GLY | CYS |
VAR_044661
- |
LP/P | - | 0.9886 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 105_GLY | ASP |
VAR_044662
rs587781504 |
US | - | 0.9794 | Sporadic cancers | |
| 105_GLY | ARG |
VAR_044663
rs1060501195 |
US | - | 0.9962 | Sporadic cancers | |
| 105_GLY | SER |
VAR_044664
rs1060501195 |
US | - | 0.9562 | A sporadic cancer | |
| 105_GLY | VAL |
VAR_044665
- |
US | - | 0.9868 | Sporadic cancers | |
| 105_GLY | ARG |
ClinVar chr17:7579374 rs1060501195 |
Pathogenic/Likely pathogenic | - | 0.9962 | Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 105_GLY | SER |
ClinVar chr17:7579374 rs1060501195 |
Pathogenic/Likely pathogenic | - | 0.9562 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 105_GLY | VAL |
ClinVar chr17:7579373 rs587781504 |
Likely pathogenic | - | 0.9868 | Neoplasm of ovary|Lung adenocarcinoma [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013] | |
| 106_SER | GLY |
VAR_044666
- |
US | - | 0.0688 | A sporadic cancer | |
| 106_SER | ARG |
VAR_044667
rs1555526581 |
US | - | 0.1535 | A familial cancer not matching LFS | |
| 106_SER | ARG |
ClinVar chr17:7579369 rs1555526581 |
Likely pathogenic | - | 0.1535 | not specified|Li-Fraumeni syndrome [MedGen:CN169374|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 107_TYR | CYS |
VAR_044668
rs587782447 |
US | - | 0.1054 | A sporadic cancer | |
| 107_TYR | ASP |
VAR_044669
- |
US | - | 0.8344 | Sporadic cancers | |
| 107_TYR | HIS |
VAR_044670
rs368771578 |
US | - | 0.1966 | A sporadic cancer | |
| 107_TYR | TER |
ClinVar chr17:7579366 rs770776262 |
Pathogenic | - | - | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 107_TYR | TER |
ClinVar chr17:7579366 rs770776262 |
Pathogenic | - | - | Li-Fraumeni syndrome|not provided [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900] | |
| 108_GLY | ASP |
VAR_044671
- |
US | - | 0.2549 | A sporadic cancer | |
| 108_GLY | SER |
VAR_044672
rs587782461 |
US | - | 0.1259 | Sporadic cancers | |
| 109_PHE | CYS |
VAR_044673
- |
US | - | 0.9844 | Sporadic cancers | |
| 109_PHE | LEU |
VAR_044674
- |
US | - | 0.9839 | A sporadic cancer | |
| 109_PHE | SER |
VAR_044675
rs1064796722 |
US | - | 0.9989 | Sporadic cancers | |
| 109_PHE | VAL |
ClinVar chr17:7579362 rs1057523496 |
Likely pathogenic | - | 0.9749 | not provided [MedGen:CN517202] | |
| 109_PHE | CYS |
ClinVar chr17:7579361 rs1064796722 |
Likely pathogenic | - | 0.9844 | Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000] | |
| 109_PHE | ILE |
ClinVar chr17:7579362 - |
Likely pathogenic | - | 0.9571 | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 110_ARG | CYS |
VAR_005860
rs587781371 |
US | - | 0.0983 | Sporadic cancers | |
| 110_ARG | LEU |
VAR_005861
rs11540654 |
US | - | 0.2152 | A familial cancer not matching LFS | |
| 110_ARG | PRO |
VAR_005862
rs11540654 |
US | - | 0.9045 | Sporadic cancers | |
| 110_ARG | GLY |
VAR_044676
- |
US | - | 0.2211 | A sporadic cancer | |
| 110_ARG | HIS |
VAR_044677
rs11540654 |
US | - | 0.0631 | Sporadic cancers | |
| 110_ARG | SER |
VAR_044678
rs587781371 |
US | - | 0.2343 | A sporadic cancer | |
| 110_ARG | PRO |
ClinVar chr17:7579358 rs11540654 |
Pathogenic | - | 0.9045 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 110_ARG | LEU |
ClinVar chr17:7579358 rs11540654 |
Pathogenic/Likely pathogenic | - | 0.2152 | Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 110_ARG | HIS |
8.3kJPN chr17:7579358 rs11540654 |
- | 0.0001 | 0.0631 | - | |
| 111_LEU | MET |
VAR_044679
- |
US | - | 0.3444 | A sporadic cancer | |
| 111_LEU | PRO |
VAR_044680
rs1057519997 |
US | - | 0.9584 | Sporadic cancers | |
| 111_LEU | GLN |
VAR_044681
rs1057519997 |
US | - | 0.9593 | Sporadic cancers | |
| 111_LEU | ARG |
VAR_044682
rs1057519997 |
US | - | 0.9601 | Sporadic cancers | |
| 112_GLY | ASP |
VAR_044683
- |
US | - | 0.4302 | Sporadic cancers | |
| 112_GLY | SER |
VAR_044684
rs1423803759 |
US | - | 0.1593 | Sporadic cancers | |
| 113_PHE | CYS |
VAR_005863
- |
US | - | 0.9677 | Sporadic cancers | |
| 113_PHE | VAL |
VAR_033033
rs587781642 |
US | - | 0.9446 | Sporadic cancers | |
| 113_PHE | ILE |
VAR_044685
- |
US | - | 0.9262 | A sporadic cancer | |
| 113_PHE | LEU |
VAR_044686
- |
US | - | 0.9964 | Sporadic cancers | |
| 113_PHE | SER |
VAR_044687
- |
US | - | 0.9952 | Sporadic cancers | |
| 113_PHE | GLY |
VAR_045788
- |
US | - | 0.9967 | A sporadic cancer | |
| 113_PHE | LEU |
ClinVar chr17:7579348 - |
Likely pathogenic | - | 0.9964 | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 114_LEU | TER |
ClinVar chr17:7579346 rs781724995 |
Pathogenic | - | - | Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000] | |
| 115_HIS | TYR |
VAR_044688
- |
US | - | 0.1234 | Sporadic cancers | |
| 116_SER | CYS |
VAR_044689
- |
US | - | 0.2552 | Sporadic cancers | |
| 116_SER | PHE |
VAR_044690
- |
US | - | 0.6667 | A sporadic cancer | |
| 116_SER | PRO |
VAR_044691
- |
US | - | 0.693 | A sporadic cancer | |
| 117_GLY | GLU |
VAR_044692
rs755238756 |
US | - | 0.9517 | Sporadic cancers | |
| 117_GLY | ARG |
VAR_044693
rs1555526518 |
US | - | 0.9297 | Sporadic cancers | |
| 118_THR | ALA |
VAR_044694
- |
US | - | 0.3644 | A sporadic cancer | |
| 118_THR | ILE |
VAR_044695
rs1064794141 |
US | - | 0.7032 | Sporadic cancers | |
| 118_THR | ARG |
VAR_044696
- |
US | - | 0.6794 | A sporadic cancer | |
| 119_ALA | ASP |
VAR_044697
- |
US | - | 0.9957 | A sporadic cancer | |
| 119_ALA | THR |
VAR_044698
- |
US | - | 0.6385 | A sporadic cancer | |
| 119_ALA | GLY |
ClinVar chr17:7579331 rs2073451331 |
Likely pathogenic | - | 0.8488 | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 120_LYS | GLU |
VAR_044699
rs121912658 |
US | - | 0.9978 | Sporadic cancers | |
| 120_LYS | MET |
VAR_044700
- |
US | - | 0.997 | Sporadic cancers | |
| 120_LYS | GLN |
VAR_044701
rs121912658 |
US | - | 0.9942 | A sporadic cancer | |
| 120_LYS | ARG |
VAR_044702
- |
US | - | 0.6345 | Sporadic cancers | |
| 120_LYS | TER |
ClinVar chr17:7579329 rs121912658 |
Pathogenic | - | - | Li-fraumeni-like syndrome [MONDO:MONDO:0800290,MedGen:C2675080] | |
| 121_SER | PHE |
VAR_044703
- |
US | - | 0.9907 | Sporadic cancers | |
| 122_VAL | LEU |
VAR_044704
- |
US | - | 0.9597 | A sporadic cancer | |
| 123_THR | ILE |
VAR_044705
rs1555526486 |
US | - | 0.7275 | A sporadic cancer | |
| 123_THR | ASN |
VAR_044706
- |
US | - | 0.6684 | A sporadic cancer | |
| 124_CYS | GLY |
VAR_044707
rs730881997 |
US | - | 0.5754 | A sporadic cancer | |
| 124_CYS | ARG |
VAR_044708
- |
US | - | 0.9764 | Sporadic cancers | |
| 124_CYS | SER |
VAR_044709
rs730881997 |
US | - | 0.4372 | Sporadic cancers | |
| 124_CYS | TRP |
VAR_044710
- |
US | - | 0.7055 | A sporadic cancer | |
| 124_CYS | TYR |
VAR_044711
- |
US | - | 0.6263 | A sporadic cancer | |
| 124_CYS | TER |
ClinVar chr17:7579315 rs1555526478 |
Pathogenic | - | - | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 125_THR | MET |
VAR_005864
rs786201057 |
US | - | 0.9602 | Sporadic cancers | |
| 125_THR | ALA |
VAR_044712
- |
US | - | 0.9598 | A sporadic cancer | |
| 125_THR | LYS |
VAR_044713
rs786201057 |
US | - | 0.9893 | Sporadic cancers | |
| 125_THR | PRO |
VAR_044714
rs1057520003 |
US | - | 0.9855 | A sporadic cancer | |
| 125_THR | ARG |
VAR_044715
rs786201057 |
US | - | 0.9823 | Sporadic cancers | |
| 125_THR | THR |
ClinVar chr17:7579312 rs55863639 |
Pathogenic | - | - | Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided|Rhabdomyosarcoma|Malignant tumor of prostate|Breast and/or ovarian cancer|Glioma susceptibility 1|Li-Fraumeni syndrome 1|TP53-related condition|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,Orphanet:1331|MedGen:CN221562|MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524||MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 125_THR | LYS |
ClinVar chr17:7579313 rs786201057 |
Pathogenic/Likely pathogenic | - | 0.9893 | Li-Fraumeni syndrome|Brainstem glioma|Lung adenocarcinoma|Glioblastoma|Papillary renal cell carcinoma type 1|Acute myeloid leukemia|Neoplasm of the large intestine|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Carcinoma of esophagus|Breast neoplasm|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Squamous cell lung carcinoma|Malignant melanoma of skin|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Ovarian serous cystadenocarcinoma|Adrenal cortex carcinoma|Neoplasm of brain|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 125_THR | THR |
ClinVar chr17:7579312 rs55863639 |
Pathogenic | - | - | Li-Fraumeni syndrome|not provided|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 125_THR | ARG |
ClinVar chr17:7579313 rs786201057 |
Pathogenic/Likely pathogenic | - | 0.9823 | Glioblastoma|Breast neoplasm|Papillary renal cell carcinoma type 1|Squamous cell carcinoma of the skin|Small cell lung carcinoma|Neoplasm of the large intestine|Hepatocellular carcinoma|Neoplasm of brain|Acute myeloid leukemia|Carcinoma of esophagus|Gastric adenocarcinoma|Squamous cell lung carcinoma|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Adrenal cortex carcinoma|Ovarian serous cystadenocarcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Brainstem glioma|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 125_THR | THR |
ClinVar chr17:7579312 rs55863639 |
Pathogenic/Likely pathogenic | - | - | Hereditary cancer-predisposing syndrome|not provided|TP53-related condition|Li-Fraumeni syndrome|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900||MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 126_TYR | ASP |
VAR_005865
rs886039483 |
US | - | 0.995 | Sporadic cancers | |
| 126_TYR | ASN |
VAR_005866
rs886039483 |
US | - | 0.9806 | Sporadic cancers | |
| 126_TYR | CYS |
VAR_044716
rs1555526335 |
US | - | 0.8716 | A familial cancer not matching LFS | |
| 126_TYR | PHE |
VAR_044717
- |
US | - | 0.1219 | A sporadic cancer | |
| 126_TYR | HIS |
VAR_044718
- |
US | - | 0.9448 | Sporadic cancers | |
| 126_TYR | SER |
VAR_044719
- |
US | - | 0.97 | Sporadic cancers | |
| 126_TYR | GLY |
VAR_045789
- |
US | - | 0.9882 | A sporadic cancer | |
| 126_TYR | TER |
ClinVar chr17:7578552 rs1567554500 |
Pathogenic/Likely pathogenic | - | - | Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary|Gastric cancer [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659] | |
| 126_TYR | TER |
ClinVar chr17:7578552 rs1567554500 |
Pathogenic | - | - | Li-Fraumeni syndrome|Prostate cancer, hereditary, 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331] | |
| 127_SER | PHE |
VAR_005867
rs730881999 |
US | - | 0.9947 | Sporadic cancers | |
| 127_SER | CYS |
VAR_044720
rs730881999 |
US | - | 0.8325 | A sporadic cancer | |
| 127_SER | PRO |
VAR_044721
- |
US | - | 0.9962 | Sporadic cancers | |
| 127_SER | THR |
VAR_044722
- |
US | - | 0.8718 | Sporadic cancers | |
| 127_SER | TYR |
VAR_044723
- |
US | - | 0.9839 | Sporadic cancers | |
| 127_SER | CYS |
ClinVar chr17:7578550 rs730881999 |
Pathogenic | - | 0.8325 | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 127_SER | TYR |
ClinVar chr17:7578550 rs730881999 |
Pathogenic | - | 0.9839 | Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 127_SER | PRO |
ClinVar chr17:7578551 rs1597371694 |
Pathogenic | - | 0.9962 | Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 128_PRO | SER |
VAR_005868
- |
US | - | 0.1068 | Sporadic cancers | |
| 128_PRO | ALA |
VAR_044724
- |
US | - | 0.0757 | Sporadic cancers | |
| 128_PRO | LEU |
VAR_044725
- |
US | - | 0.1109 | Sporadic cancers | |
| 128_PRO | ARG |
VAR_044726
- |
US | - | 0.1368 | Sporadic cancers | |
| 129_ALA | ASP |
VAR_005869
- |
US | - | 0.0679 | Sporadic cancers | |
| 129_ALA | GLY |
VAR_044727
- |
US | - | 0.0979 | A sporadic cancer | |
| 129_ALA | THR |
VAR_044728
rs1438095083 |
US | - | 0.063 | Sporadic cancers | |
| 129_ALA | VAL |
VAR_044729
rs137852792 |
US | - | 0.0707 | Sporadic cancers | |
| 130_LEU | ARG |
VAR_005870
- |
US | - | 0.6991 | Sporadic cancers | |
| 130_LEU | PHE |
VAR_044730
rs863224683 |
US | - | 0.8335 | Sporadic cancers | |
| 130_LEU | HIS |
VAR_044731
- |
US | - | 0.916 | Sporadic cancers | |
| 130_LEU | ILE |
VAR_044732
- |
US | - | 0.4647 | A sporadic cancer | |
| 130_LEU | PRO |
VAR_044733
rs1131691013 |
US | - | 0.9844 | Sporadic cancers | |
| 130_LEU | VAL |
VAR_044734
rs863224683 |
US | - | 0.4003 | Sporadic cancers | |
| 130_LEU | PRO |
ClinVar chr17:7578541 rs1131691013 |
Pathogenic | - | 0.9844 | Hereditary cancer-predisposing syndrome|12 conditions [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|12 conditions] | |
| 130_LEU | HIS |
ClinVar chr17:7578541 rs1131691013 |
Pathogenic | - | 0.916 | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 131_ASN | SER |
VAR_005871
- |
US | - | 0.1566 | Sporadic cancers | |
| 131_ASN | LYS |
VAR_005872
rs769270327 |
US | - | 0.3836 | Sporadic cancers | |
| 131_ASN | ASP |
VAR_044735
- |
US | - | 0.1983 | A sporadic cancer | |
| 131_ASN | HIS |
VAR_044736
- |
US | - | 0.1721 | Sporadic cancers | |
| 131_ASN | ILE |
VAR_044737
rs1131691037 |
US | - | 0.9111 | Sporadic cancers | |
| 131_ASN | THR |
VAR_044738
- |
US | - | 0.5533 | A sporadic cancer | |
| 131_ASN | TYR |
VAR_044739
rs587782160 |
US | - | 0.5291 | Sporadic cancers | |
| 131_ASN | TYR |
ClinVar chr17:7578539 rs587782160 |
Pathogenic | - | 0.5291 | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 131_ASN | ILE |
ClinVar chr17:7578538 rs1131691037 |
Pathogenic | - | 0.9111 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 132_LYS | MET |
VAR_005873
rs1057519996 |
US | - | 0.9874 | Sporadic cancers | |
| 132_LYS | GLN |
VAR_005874
rs747342068 |
US | - | 0.9807 | Sporadic cancers | |
| 132_LYS | GLU |
VAR_044740
rs747342068 |
LP/P | - | 0.9978 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 132_LYS | ASN |
VAR_044741
rs866775781 |
US | - | 0.9987 | Sporadic cancers | |
| 132_LYS | ARG |
VAR_044742
rs1057519996 |
US | - | 0.5077 | Sporadic cancers | |
| 132_LYS | THR |
VAR_044743
rs1057519996 |
US | - | 0.9872 | Sporadic cancers | |
| 132_LYS | LEU |
VAR_045790
- |
US | - | 0.9933 | A sporadic cancer | |
| 132_LYS | TRP |
VAR_045791
- |
US | - | 0.9994 | A sporadic cancer | |
| 132_LYS | ASN |
ClinVar chr17:7578534 rs866775781 |
Likely pathogenic | - | 0.9987 | Lung adenocarcinoma|Multiple myeloma|Breast neoplasm|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Uterine carcinosarcoma|Squamous cell lung carcinoma|Pancreatic adenocarcinoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Adrenal cortex carcinoma|Glioblastoma|Gastric adenocarcinoma|Neoplasm of uterine cervix|Carcinoma of esophagus|Neoplasm of brain|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 132_LYS | ARG |
ClinVar chr17:7578535 rs1057519996 |
Pathogenic | - | 0.5077 | Neoplasm of brain|Transitional cell carcinoma of the bladder|Uterine carcinosarcoma|Multiple myeloma|Adrenal cortex carcinoma|Breast neoplasm|Gastric adenocarcinoma|Ovarian serous cystadenocarcinoma|Carcinoma of esophagus|Squamous cell carcinoma of the head and neck|Neoplasm of uterine cervix|Pancreatic adenocarcinoma|Glioblastoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Neoplasm of the large intestine|Squamous cell lung carcinoma|Neoplasm of ovary|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 132_LYS | GLU |
ClinVar chr17:7578536 rs747342068 |
Pathogenic/Likely pathogenic | - | 0.9978 | Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Breast neoplasm|Transitional cell carcinoma of the bladder|Pancreatic adenocarcinoma|Neoplasm of uterine cervix|Multiple myeloma|Neoplasm of brain|Uterine carcinosarcoma|Lung adenocarcinoma|Gastric adenocarcinoma|Carcinoma of esophagus|Adrenal cortex carcinoma|Squamous cell lung carcinoma|Glioblastoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 132_LYS | ASN |
ClinVar chr17:7578534 rs866775781 |
Pathogenic/Likely pathogenic | - | 0.9987 | Neoplasm of ovary|Li-Fraumeni syndrome|not provided [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900] | |
| 132_LYS | TER |
ClinVar chr17:7578536 - |
Pathogenic | - | - | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 133_MET | THR |
VAR_005875
rs28934873 |
LP/P | - | 0.9114 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 133_MET | ILE |
VAR_044744
rs1064795139 |
US | - | 0.5785 | Sporadic cancers | |
| 133_MET | LYS |
VAR_044745
- |
US | - | 0.9651 | Sporadic cancers | |
| 133_MET | LEU |
VAR_044746
- |
US | - | 0.0735 | Sporadic cancers | |
| 133_MET | ARG |
VAR_044747
- |
LP/P | - | 0.969 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 133_MET | VAL |
VAR_044748
rs1057280220 |
US | - | 0.2123 | Sporadic cancers | |
| 133_MET | THR |
ClinVar chr17:7578532 rs28934873 |
Pathogenic | - | 0.9114 | Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 133_MET | LYS |
ClinVar chr17:7578532 - |
Likely pathogenic | - | 0.9651 | Breast carcinoma [Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222] | |
| 134_PHE | LEU |
VAR_036504
rs267605077 |
US | - | 0.9996 | Sporadic cancers | |
| 134_PHE | CYS |
VAR_044749
rs780442292 |
US | - | 0.9992 | Sporadic cancers | |
| 134_PHE | ILE |
VAR_044750
- |
US | - | 0.9978 | Sporadic cancers | |
| 134_PHE | SER |
VAR_044751
- |
US | - | 0.9992 | Sporadic cancers | |
| 134_PHE | VAL |
VAR_044752
- |
US | - | 0.9977 | Sporadic cancers | |
| 134_PHE | CYS |
ClinVar chr17:7578529 rs780442292 |
Likely pathogenic | - | 0.9992 | Hereditary cancer-predisposing syndrome|not provided [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900] | |
| 134_PHE | ILE |
ClinVar chr17:7578530 rs267605077 |
Pathogenic | - | 0.9978 | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 135_CYS | SER |
VAR_005876
rs1057519975 |
US | - | 0.958 | Sporadic cancers | |
| 135_CYS | PHE |
VAR_005877
rs587781991 |
US | - | 0.986 | Sporadic cancers | |
| 135_CYS | GLY |
VAR_044753
rs1057519975 |
US | - | 0.9352 | Sporadic cancers | |
| 135_CYS | ARG |
VAR_044754
rs1057519975 |
US | - | 0.9978 | Sporadic cancers | |
| 135_CYS | TRP |
VAR_044755
rs1057519976 |
US | - | 0.9986 | Sporadic cancers | |
| 135_CYS | TYR |
VAR_044756
rs587781991 |
US | - | 0.998 | Sporadic cancers | |
| 135_CYS | THR |
VAR_045792
- |
US | - | 0.9364 | A sporadic cancer | |
| 135_CYS | PHE |
ClinVar chr17:7578526 rs587781991 |
Pathogenic | - | 0.986 | Neoplasm of brain|Prostate adenocarcinoma|Adrenal cortex carcinoma|Neoplasm of the large intestine|Carcinoma of esophagus|Lung adenocarcinoma|Breast neoplasm|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Hereditary cancer-predisposing syndrome|Hepatocellular carcinoma|Transitional cell carcinoma of the bladder|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 135_CYS | ARG |
ClinVar chr17:7578527 rs1057519975 |
Pathogenic | - | 0.9978 | Neoplasm of brain|Prostate adenocarcinoma|Lung adenocarcinoma|Breast neoplasm|Adrenal cortex carcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 135_CYS | GLY |
ClinVar chr17:7578527 rs1057519975 |
Likely pathogenic | - | 0.9352 | Neoplasm of the large intestine|Prostate adenocarcinoma|Squamous cell lung carcinoma|Gastric adenocarcinoma|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Adrenal cortex carcinoma|Pancreatic adenocarcinoma|Lung adenocarcinoma|Breast neoplasm|Neoplasm of brain|Hepatocellular carcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000] | |
| 136_GLN | GLU |
VAR_005878
rs1555526268 |
US | - | 0.7507 | Sporadic cancers | |
| 136_GLN | LYS |
VAR_005879
- |
US | - | 0.7678 | A sporadic cancer | |
| 136_GLN | HIS |
VAR_044757
rs758781593 |
US | - | 0.9347 | Sporadic cancers | |
| 136_GLN | PRO |
VAR_044758
- |
US | - | 0.9437 | Sporadic cancers | |
| 136_GLN | ARG |
VAR_044759
- |
US | - | 0.6506 | Sporadic cancers | |
| 136_GLN | TER |
ClinVar chr17:7578524 - |
Pathogenic | - | - | Li-Fraumeni syndrome|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 137_LEU | GLN |
VAR_005880
- |
US | - | 0.9075 | Sporadic cancers | |
| 137_LEU | MET |
VAR_044760
- |
US | - | 0.3219 | Sporadic cancers | |
| 137_LEU | PRO |
VAR_044761
- |
US | - | 0.9377 | Sporadic cancers | |
| 137_LEU | VAL |
VAR_044762
- |
US | - | 0.4695 | Sporadic cancers | |
| 138_ALA | PRO |
VAR_005881
rs28934875 |
LP/P | - | 0.9887 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 138_ALA | VAL |
VAR_033034
rs750600586 |
US | - | 0.9331 | Sporadic cancers | |
| 138_ALA | ASP |
VAR_044763
- |
US | - | 0.9364 | Sporadic cancers | |
| 138_ALA | SER |
VAR_044764
- |
LP/P | - | 0.174 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 138_ALA | THR |
VAR_044765
- |
US | - | 0.7817 | Sporadic cancers | |
| 138_ALA | PRO |
ClinVar chr17:7578518 rs28934875 |
Pathogenic/Likely pathogenic | - | 0.9887 | Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 139_LYS | ASN |
VAR_005882
- |
US | - | 0.9818 | Sporadic cancers | |
| 139_LYS | GLU |
VAR_044766
rs1212996409 |
US | - | 0.9567 | Sporadic cancers | |
| 139_LYS | GLN |
VAR_044767
- |
US | - | 0.772 | Sporadic cancers | |
| 139_LYS | ARG |
VAR_044768
- |
US | - | 0.174 | Sporadic cancers | |
| 139_LYS | THR |
VAR_044769
- |
US | - | 0.8955 | Sporadic cancers | |
| 139_LYS | TER |
ClinVar chr17:7578515 rs1212996409 |
Pathogenic | - | - | Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000] | |
| 140_THR | ALA |
VAR_044770
- |
US | - | 0.559 | Sporadic cancers | |
| 140_THR | ILE |
VAR_044771
- |
US | - | 0.9262 | Sporadic cancers | |
| 140_THR | ASN |
VAR_044772
rs786202561 |
US | - | 0.7784 | A sporadic cancer | |
| 140_THR | PRO |
VAR_044773
- |
US | - | 0.3055 | A sporadic cancer | |
| 140_THR | SER |
VAR_044774
- |
US | - | 0.6699 | Sporadic cancers | |
| 141_CYS | GLY |
VAR_005884
rs1057519978 |
US | - | 0.906 | Sporadic cancers | |
| 141_CYS | PHE |
VAR_005885
rs587781288 |
US | - | 0.8882 | Sporadic cancers | |
| 141_CYS | TYR |
VAR_005886
rs587781288 |
LP/P | - | 0.9774 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 141_CYS | ARG |
VAR_044775
rs1057519978 |
US | - | 0.9943 | Sporadic cancers | |
| 141_CYS | SER |
VAR_044776
rs1057519978 |
US | - | 0.8319 | Sporadic cancers | |
| 141_CYS | TRP |
VAR_044777
rs1057519977 |
US | - | 0.9877 | Sporadic cancers | |
| 141_CYS | ALA |
VAR_045793
- |
US | - | 0.8948 | A sporadic cancer | |
| 141_CYS | TYR |
ClinVar chr17:7578508 rs587781288 |
Pathogenic | - | 0.9774 | Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the head and neck|Papillary renal cell carcinoma type 1|Neoplasm of the large intestine|Squamous cell lung carcinoma|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Prostate adenocarcinoma|Acute myeloid leukemia|Li-Fraumeni syndrome|Pancreatic adenocarcinoma|Breast neoplasm|Neoplasm of brain|Multiple myeloma|Neoplasm of ovary|not provided|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MedGen:C0153574|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 141_CYS | TRP |
ClinVar chr17:7578507 rs1057519977 |
Pathogenic/Likely pathogenic | - | 0.9877 | Acute myeloid leukemia|Squamous cell lung carcinoma|Neoplasm of the large intestine|Breast neoplasm|Multiple myeloma|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Papillary renal cell carcinoma type 1|Prostate adenocarcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of brain|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MedGen:C0153574|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037] | |
| 141_CYS | GLY |
ClinVar chr17:7578509 rs1057519978 |
Likely pathogenic | - | 0.906 | Acute myeloid leukemia|Neoplasm of the large intestine|Lung adenocarcinoma|Multiple myeloma|Pancreatic adenocarcinoma|Squamous cell carcinoma of the head and neck|Malignant neoplasm of body of uterus|Breast neoplasm|Papillary renal cell carcinoma type 1|Prostate adenocarcinoma|Squamous cell lung carcinoma|Neoplasm of brain [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C0153574|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118] | |
| 141_CYS | SER |
ClinVar chr17:7578509 rs1057519978 |
Likely pathogenic | - | 0.8319 | Breast neoplasm|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Neoplasm of brain|Squamous cell carcinoma of the head and neck|Acute myeloid leukemia|Lung adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Prostate adenocarcinoma|Squamous cell lung carcinoma|Multiple myeloma [Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443] | |
| 142_PRO | ALA |
VAR_044778
- |
US | - | 0.6572 | Sporadic cancers | |
| 142_PRO | HIS |
VAR_044779
- |
US | - | 0.9499 | Sporadic cancers | |
| 142_PRO | LEU |
VAR_044780
rs779196500 |
US | - | 0.8091 | Sporadic cancers | |
| 142_PRO | ARG |
VAR_044781
- |
US | - | 0.9261 | A sporadic cancer | |
| 142_PRO | SER |
VAR_044782
- |
US | - | 0.8928 | Sporadic cancers | |
| 142_PRO | THR |
VAR_044783
- |
US | - | 0.8496 | Sporadic cancers | |
| 142_PRO | PHE |
VAR_045794
- |
US | - | 0.9934 | Sporadic cancers | |
| 143_VAL | ALA |
VAR_005887
- |
US | - | 0.9245 | Sporadic cancers | |
| 143_VAL | GLU |
VAR_044784
- |
US | - | 0.997 | Sporadic cancers | |
| 143_VAL | GLY |
VAR_044785
rs1555526241 |
US | - | 0.9773 | Sporadic cancers | |
| 143_VAL | LEU |
VAR_044786
rs587782620 |
US | - | 0.5804 | Sporadic cancers | |
| 143_VAL | MET |
VAR_044787
rs587782620 |
US | - | 0.6458 | Sporadic cancers | |
| 143_VAL | ALA |
ClinVar chr17:7578502 rs1555526241 |
Likely pathogenic | - | 0.9245 | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 144_GLN | PRO |
VAR_005888
rs786203071 |
US | - | 0.9497 | Sporadic cancers | |
| 144_GLN | HIS |
VAR_044788
rs786201419 |
US | - | 0.628 | Sporadic cancers | |
| 144_GLN | LYS |
VAR_044789
- |
US | - | 0.335 | Sporadic cancers | |
| 144_GLN | LEU |
VAR_044790
rs786203071 |
LP/P | - | 0.344 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 144_GLN | ARG |
VAR_044791
- |
US | - | 0.3028 | Sporadic cancers | |
| 144_GLN | TER |
ClinVar chr17:7578500 rs757274881 |
Pathogenic | - | - | Neoplasm of ovary|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 145_LEU | PRO |
VAR_005889
rs587782197 |
US | - | 0.9946 | Sporadic cancers | |
| 145_LEU | GLN |
VAR_005890
- |
US | - | 0.9799 | Sporadic cancers | |
| 145_LEU | MET |
VAR_044792
- |
US | - | 0.2145 | Sporadic cancers | |
| 145_LEU | ARG |
VAR_044793
- |
US | - | 0.9863 | Sporadic cancers | |
| 145_LEU | VAL |
VAR_044794
- |
US | - | 0.1076 | Sporadic cancers | |
| 146_TRP | CYS |
VAR_044795
- |
US | - | 0.6342 | A sporadic cancer | |
| 146_TRP | GLY |
VAR_044796
rs786203064 |
US | - | 0.5479 | Sporadic cancers | |
| 146_TRP | LEU |
VAR_044797
- |
US | - | 0.3508 | Sporadic cancers | |
| 146_TRP | ARG |
VAR_044798
- |
US | - | 0.5671 | Sporadic cancers | |
| 146_TRP | SER |
VAR_044799
- |
US | - | 0.3925 | Sporadic cancers | |
| 146_TRP | TER |
ClinVar chr17:7578492 rs1131691026 |
Pathogenic | - | - | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 146_TRP | TER |
ClinVar chr17:7578493 rs1206165503 |
Pathogenic | - | - | Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 147_VAL | ASP |
VAR_005891
- |
US | - | 0.9858 | Sporadic cancers | |
| 147_VAL | GLY |
VAR_005892
rs1453167097 |
US | - | 0.6169 | Sporadic cancers | |
| 147_VAL | ALA |
VAR_044800
- |
US | - | 0.5938 | Sporadic cancers | |
| 147_VAL | GLU |
VAR_044801
- |
US | - | 0.9668 | Sporadic cancers | |
| 147_VAL | PHE |
VAR_044802
- |
US | - | 0.6895 | A sporadic cancer | |
| 147_VAL | ILE |
VAR_044803
rs1555526226 |
US | - | 0.2039 | Sporadic cancers | |
| 148_ASP | ALA |
VAR_044804
rs1046611742 |
US | - | 0.1061 | A sporadic cancer | |
| 148_ASP | GLU |
VAR_044805
- |
US | - | 0.1156 | Sporadic cancers | |
| 148_ASP | GLY |
VAR_044806
- |
US | - | 0.1079 | A sporadic cancer | |
| 148_ASP | ASN |
VAR_044807
- |
US | - | 0.0719 | Sporadic cancers | |
| 148_ASP | VAL |
VAR_044808
- |
US | - | 0.1965 | Sporadic cancers | |
| 148_ASP | TYR |
VAR_044809
rs1131691007 |
US | - | 0.208 | Sporadic cancers | |
| 149_SER | PRO |
VAR_005893
- |
US | - | 0.5992 | Sporadic cancers | |
| 149_SER | PHE |
VAR_044810
rs1555526214 |
US | - | 0.1304 | Sporadic cancers | |
| 149_SER | THR |
VAR_044811
- |
US | - | 0.0641 | Sporadic cancers | |
| 150_THR | ALA |
VAR_044812
- |
US | - | 0.0591 | A sporadic cancer | |
| 150_THR | ILE |
VAR_044813
- |
US | - | 0.0817 | Sporadic cancers | |
| 150_THR | LYS |
VAR_044814
- |
US | - | 0.1507 | Sporadic cancers | |
| 150_THR | ASN |
VAR_044815
- |
US | - | 0.0873 | A sporadic cancer | |
| 150_THR | PRO |
VAR_044816
- |
US | - | 0.0473 | A sporadic cancer | |
| 150_THR | ARG |
VAR_044817
- |
US | - | 0.123 | A sporadic cancer | |
| 151_PRO | ALA |
VAR_005894
rs28934874 |
US | - | 0.6047 | Sporadic cancers | |
| 151_PRO | SER |
VAR_005895
rs28934874 |
LP/P | - | 0.961 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 151_PRO | THR |
VAR_005896
rs28934874 |
LP/P | - | 0.8944 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 151_PRO | HIS |
VAR_044818
rs1057520000 |
US | - | 0.992 | Sporadic cancers | |
| 151_PRO | LEU |
VAR_044819
- |
US | - | 0.5469 | Sporadic cancers | |
| 151_PRO | ARG |
VAR_044820
rs1057520000 |
US | - | 0.9897 | Sporadic cancers | |
| 151_PRO | THR |
ClinVar chr17:7578479 rs28934874 |
Pathogenic/Likely pathogenic | - | 0.8944 | Breast adenocarcinoma|Hereditary cancer-predisposing syndrome|Squamous cell lung carcinoma|Ovarian serous cystadenocarcinoma|Carcinoma of esophagus|Multiple myeloma|Adenoid cystic carcinoma|Neoplasm of brain|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Breast neoplasm|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Uterine carcinosarcoma|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|not provided|Li-Fraumeni syndrome|Rhabdomyosarcoma|Li-Fraumeni syndrome 1 [MONDO:MONDO:0004988,MedGen:C0858252|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C0153574|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 151_PRO | SER |
ClinVar chr17:7578479 rs28934874 |
Pathogenic/Likely pathogenic | - | 0.961 | Breast adenocarcinoma|not provided|Hereditary cancer-predisposing syndrome|Carcinoma of esophagus|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Gastric adenocarcinoma|Neoplasm of the large intestine|Multiple myeloma|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of brain|Uterine carcinosarcoma|Adenoid cystic carcinoma|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Breast neoplasm|Hepatocellular carcinoma|Transitional cell carcinoma of the bladder|Li-Fraumeni syndrome|Neoplasm of ovary|Rhabdomyosarcoma|Li-Fraumeni syndrome 1 [MONDO:MONDO:0004988,MedGen:C0858252|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 151_PRO | ARG |
ClinVar chr17:7578478 rs1057520000 |
Pathogenic/Likely pathogenic | - | 0.9897 | Transitional cell carcinoma of the bladder|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Neoplasm of brain|Multiple myeloma|Uterine carcinosarcoma|Malignant neoplasm of body of uterus|Squamous cell lung carcinoma|Lung adenocarcinoma|Malignant melanoma of skin|Adenoid cystic carcinoma|Carcinoma of esophagus|Breast neoplasm|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0006485,MedGen:C0280630|MedGen:C0153574|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 151_PRO | ALA |
ClinVar chr17:7578479 rs28934874 |
Pathogenic | - | 0.6047 | Breast neoplasm|Uterine carcinosarcoma|Neoplasm of the large intestine|Neoplasm of brain|Hepatocellular carcinoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Multiple myeloma|Malignant neoplasm of body of uterus|Adenoid cystic carcinoma|Carcinoma of esophagus|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MedGen:C0153574|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 152_PRO | LEU |
VAR_005897
rs587782705 |
LP/P | - | 0.3559 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 152_PRO | SER |
VAR_005898
rs767328513 |
US | - | 0.4796 | Sporadic cancers | |
| 152_PRO | ALA |
VAR_044821
- |
US | - | 0.3011 | Sporadic cancers | |
| 152_PRO | GLN |
VAR_044822
- |
US | - | 0.5994 | Sporadic cancers | |
| 152_PRO | ARG |
VAR_044823
- |
US | - | 0.6385 | Sporadic cancers | |
| 152_PRO | THR |
VAR_044824
- |
US | - | 0.4973 | Sporadic cancers | |
| 152_PRO | LEU |
ClinVar chr17:7578475 rs587782705 |
Pathogenic | - | 0.3559 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Lip and oral cavity carcinoma|Li-Fraumeni syndrome 1|Familial cancer of breast|Squamous cell carcinoma of the head and neck|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0023644,MedGen:C0220641|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 152_PRO | ARG |
ClinVar chr17:7578475 rs587782705 |
Pathogenic/Likely pathogenic | - | 0.6385 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 153_PRO | THR |
VAR_005899
- |
US | - | 0.0862 | Sporadic cancers | |
| 153_PRO | ALA |
VAR_044825
- |
US | - | 0.0565 | Sporadic cancers | |
| 153_PRO | HIS |
VAR_044826
- |
US | - | 0.1129 | A sporadic cancer | |
| 153_PRO | LEU |
VAR_044827
- |
US | - | 0.0741 | Sporadic cancers | |
| 153_PRO | ARG |
VAR_044828
- |
US | - | 0.0975 | A sporadic cancer | |
| 153_PRO | SER |
VAR_044829
rs1064795860 |
US | - | 0.0929 | Sporadic cancers | |
| 153_PRO | PHE |
VAR_045795
- |
US | - | 0.2715 | A sporadic cancer | |
| 154_GLY | VAL |
VAR_005900
rs762846821 |
US | - | 0.5817 | A brain tumor with no family history | |
| 154_GLY | ALA |
VAR_044830
- |
US | - | 0.2768 | Sporadic cancers | |
| 154_GLY | CYS |
VAR_044831
- |
US | - | 0.3408 | A sporadic cancer | |
| 154_GLY | ASP |
VAR_044832
rs762846821 |
US | - | 0.261 | Sporadic cancers | |
| 154_GLY | SER |
VAR_044833
rs137852789 |
US | - | 0.1525 | Sporadic cancers | |
| 154_GLY | ILE |
VAR_045796
- |
US | - | 0.7892 | Sporadic cancers | |
| 155_THR | ALA |
VAR_005901
rs772683278 |
US | - | 0.086 | Sporadic cancers | |
| 155_THR | ILE |
VAR_044834
- |
US | - | 0.833 | Sporadic cancers | |
| 155_THR | MET |
VAR_044835
- |
US | - | 0.4361 | A sporadic cancer | |
| 155_THR | ASN |
VAR_044836
rs786202752 |
LP/P | - | 0.7722 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 155_THR | PRO |
VAR_044837
- |
US | - | 0.9028 | Sporadic cancers | |
| 155_THR | SER |
VAR_044838
rs786202752 |
US | - | 0.0875 | Sporadic cancers | |
| 156_ARG | PRO |
VAR_005902
- |
US | - | 0.9793 | Sporadic cancers | |
| 156_ARG | CYS |
VAR_044839
rs563378859 |
US | - | 0.1809 | Sporadic cancers | |
| 156_ARG | GLY |
VAR_044840
- |
US | - | 0.6544 | Sporadic cancers | |
| 156_ARG | HIS |
VAR_044841
rs371524413 |
LP/P | - | 0.1586 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 156_ARG | LEU |
VAR_044842
- |
US | - | 0.3339 | Sporadic cancers | |
| 156_ARG | SER |
VAR_044843
- |
US | - | 0.6905 | Sporadic cancers | |
| 157_VAL | ASP |
VAR_005903
- |
US | - | 0.9992 | Sporadic cancers | |
| 157_VAL | PHE |
VAR_005904
rs121912654 |
US | - | 0.9349 | Sporadic cancers | |
| 157_VAL | ILE |
VAR_012977
rs121912654 |
US | - | 0.1052 | Sporadic cancers | |
| 157_VAL | ALA |
VAR_044844
rs1131691023 |
US | - | 0.9464 | Sporadic cancers | |
| 157_VAL | GLY |
VAR_044845
- |
US | - | 0.9524 | Sporadic cancers | |
| 157_VAL | LEU |
VAR_044846
- |
US | - | 0.6073 | Sporadic cancers | |
| 158_ARG | CYS |
VAR_005905
rs587780068 |
US | - | 0.9622 | Sporadic cancers | |
| 158_ARG | GLY |
VAR_005906
- |
LP/P | - | 0.9963 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 158_ARG | HIS |
VAR_005907
rs587782144 |
LP/P | - | 0.9236 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 158_ARG | LEU |
VAR_044847
- |
US | - | 0.9902 | Sporadic cancers | |
| 158_ARG | PRO |
VAR_044848
rs587782144 |
US | - | 0.9986 | Sporadic cancers | |
| 158_ARG | GLN |
VAR_044849
- |
US | - | 0.9552 | A sporadic cancer | |
| 158_ARG | SER |
VAR_044850
- |
US | - | 0.9981 | Sporadic cancers | |
| 158_ARG | PHE |
VAR_045797
- |
US | - | 0.9992 | A sporadic cancer | |
| 158_ARG | TYR |
VAR_045798
- |
US | - | 0.9961 | A sporadic cancer | |
| 158_ARG | HIS |
ClinVar chr17:7578457 rs587782144 |
Pathogenic/Likely pathogenic | - | 0.9236 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|Rhabdomyosarcoma|Adrenocortical carcinoma, hereditary|Breast and/or ovarian cancer [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MedGen:CN221562] | |
| 158_ARG | PRO |
ClinVar chr17:7578457 rs587782144 |
Likely pathogenic | - | 0.9986 | not provided|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 158_ARG | LEU |
ClinVar chr17:7578457 rs587782144 |
Pathogenic | - | 0.9902 | Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 158_ARG | GLY |
ClinVar chr17:7578458 rs587780068 |
Pathogenic | - | 0.9963 | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 158_ARG | SER |
ClinVar chr17:7578458 rs587780068 |
Pathogenic | - | 0.9981 | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 159_ALA | ASP |
VAR_044851
- |
US | - | 0.9985 | Sporadic cancers | |
| 159_ALA | GLY |
VAR_044852
- |
US | - | 0.5551 | Sporadic cancers | |
| 159_ALA | PRO |
VAR_044853
rs730882000 |
US | - | 0.9973 | Sporadic cancers | |
| 159_ALA | SER |
VAR_044854
- |
US | - | 0.4783 | Sporadic cancers | |
| 159_ALA | THR |
VAR_044855
rs730882000 |
US | - | 0.4315 | Sporadic cancers | |
| 159_ALA | VAL |
VAR_044856
rs1555526131 |
US | - | 0.6808 | Sporadic cancers | |
| 159_ALA | PHE |
VAR_045799
rs730882022 |
US | - | 0.979 | A sporadic cancer | |
| 159_ALA | VAL |
ClinVar chr17:7578454 rs1555526131 |
Pathogenic/Likely pathogenic | - | 0.6808 | Li-Fraumeni syndrome|not provided|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 159_ALA | ASP |
ClinVar chr17:7578454 rs1555526131 |
Pathogenic | - | 0.9985 | Li-Fraumeni syndrome|Prostate cancer, hereditary, 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331] | |
| 160_MET | ILE |
VAR_005908
rs772354334 |
US | - | 0.9318 | Sporadic cancers | |
| 160_MET | LYS |
VAR_044857
- |
US | - | 0.9752 | Sporadic cancers | |
| 160_MET | THR |
VAR_044858
- |
US | - | 0.5246 | A sporadic cancer | |
| 160_MET | VAL |
VAR_044859
rs377274728 |
US | - | 0.2649 | Sporadic cancers | |
| 160_MET | THR |
8.3kJPN chr17:7578451 - |
- | 0.0001 | 0.5246 | - | |
| 161_ALA | SER |
VAR_005909
- |
US | - | 0.782 | Sporadic cancers | |
| 161_ALA | ASP |
VAR_044860
rs1064795691 |
US | - | 0.9987 | Sporadic cancers | |
| 161_ALA | GLY |
VAR_044861
- |
US | - | 0.7679 | Sporadic cancers | |
| 161_ALA | PRO |
VAR_044862
- |
US | - | 0.6616 | Sporadic cancers | |
| 161_ALA | THR |
VAR_044863
rs193920817 |
US | - | 0.9563 | Sporadic cancers | |
| 161_ALA | VAL |
VAR_044864
- |
US | - | 0.8937 | Sporadic cancers | |
| 161_ALA | PHE |
VAR_045800
- |
US | - | 0.995 | A sporadic cancer | |
| 161_ALA | THR |
ClinVar chr17:7578449 rs193920817 |
Pathogenic/Likely pathogenic | - | 0.9563 | Malignant tumor of prostate|not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1|Adrenocortical carcinoma, hereditary [Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,Orphanet:1331|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 162_ILE | SER |
VAR_005910
rs587780069 |
US | - | 0.9693 | Sporadic cancers | |
| 162_ILE | VAL |
VAR_005911
- |
US | - | 0.0931 | Sporadic cancers | |
| 162_ILE | PHE |
VAR_044865
- |
US | - | 0.7741 | Sporadic cancers | |
| 162_ILE | MET |
VAR_044866
- |
US | - | 0.4763 | Sporadic cancers | |
| 162_ILE | ASN |
VAR_044867
- |
US | - | 0.9882 | A breast cancer with no family history | |
| 162_ILE | THR |
VAR_044868
- |
US | - | 0.9144 | Sporadic cancers | |
| 163_TYR | HIS |
VAR_005912
rs786203436 |
US | - | 0.9929 | Sporadic cancers | |
| 163_TYR | CYS |
VAR_033035
rs148924904 |
LP/P | - | 0.9824 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 163_TYR | ASP |
VAR_044869
rs786203436 |
US | - | 0.9992 | Sporadic cancers | |
| 163_TYR | PHE |
VAR_044870
- |
US | - | 0.2372 | A sporadic cancer | |
| 163_TYR | ASN |
VAR_044871
rs786203436 |
US | - | 0.9958 | Sporadic cancers | |
| 163_TYR | SER |
VAR_044872
- |
US | - | 0.9949 | Sporadic cancers | |
| 163_TYR | CYS |
ClinVar chr17:7578442 rs148924904 |
Pathogenic | - | 0.9824 | not provided|Hepatocellular carcinoma|Brainstem glioma|Squamous cell lung carcinoma|Small cell lung carcinoma|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Breast neoplasm|Carcinoma of esophagus|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Uterine carcinosarcoma|Lung adenocarcinoma|Neoplasm of brain|Li-Fraumeni syndrome [MedGen:C3661900|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 163_TYR | TER |
ClinVar chr17:7578441 rs1567553246 |
Pathogenic | - | - | not provided|Li-Fraumeni syndrome [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 163_TYR | TER |
ClinVar chr17:7578441 rs1567553246 |
Pathogenic | - | - | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 164_LYS | ASN |
VAR_005913
rs1131691034 |
US | - | 0.983 | Sporadic cancers | |
| 164_LYS | GLN |
VAR_005914
- |
US | - | 0.5962 | Sporadic cancers | |
| 164_LYS | GLU |
VAR_044873
rs879254249 |
US | - | 0.9696 | Sporadic cancers | |
| 164_LYS | MET |
VAR_044874
- |
US | - | 0.901 | Sporadic cancers | |
| 164_LYS | ARG |
VAR_044875
- |
US | - | 0.1385 | Sporadic cancers | |
| 164_LYS | THR |
VAR_044876
- |
US | - | 0.8969 | Sporadic cancers | |
| 164_LYS | TER |
ClinVar chr17:7578440 rs879254249 |
Pathogenic | - | - | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 165_GLN | LEU |
VAR_005915
- |
US | - | 0.2476 | Sporadic cancers | |
| 165_GLN | ARG |
VAR_005916
- |
US | - | 0.2235 | Sporadic cancers | |
| 165_GLN | GLU |
VAR_044877
- |
US | - | 0.238 | Sporadic cancers | |
| 165_GLN | HIS |
VAR_044878
- |
US | - | 0.3948 | A sporadic cancer | |
| 165_GLN | PRO |
VAR_044879
- |
US | - | 0.5766 | Sporadic cancers | |
| 165_GLN | TER |
ClinVar chr17:7578437 rs730882001 |
Pathogenic | - | - | not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Squamous cell carcinoma of the head and neck|Lip and oral cavity carcinoma|Familial cancer of breast|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0023644,MedGen:C0220641|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 165_GLN | LEU |
ClinVar chr17:7578436 - |
Pathogenic | - | 0.2476 | Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519] | |
| 166_SER | LEU |
VAR_005917
rs1555526101 |
US | - | 0.1355 | Sporadic cancers | |
| 166_SER | ALA |
VAR_044880
- |
US | - | 0.0945 | Sporadic cancers | |
| 166_SER | GLY |
VAR_044881
- |
US | - | 0.3208 | A sporadic cancer | |
| 166_SER | PRO |
VAR_044882
- |
US | - | 0.3253 | Sporadic cancers | |
| 166_SER | THR |
VAR_044883
- |
US | - | 0.157 | Sporadic cancers | |
| 166_SER | TER |
ClinVar chr17:7578433 rs1555526101 |
Pathogenic | - | - | Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000] | |
| 167_GLN | HIS |
VAR_044884
- |
US | - | 0.5183 | Sporadic cancers | |
| 167_GLN | LYS |
VAR_044885
- |
LP/P | - | 0.3089 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 167_GLN | LEU |
VAR_044886
- |
US | - | 0.3813 | Sporadic cancers | |
| 167_GLN | ARG |
VAR_044887
- |
US | - | 0.3113 | Sporadic cancers | |
| 167_GLN | TER |
ClinVar chr17:7578431 rs1555526097 |
Pathogenic/Likely pathogenic | - | - | Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not provided|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 168_HIS | ARG |
VAR_005918
rs867114783 |
US | - | 0.8669 | Sporadic cancers | |
| 168_HIS | ASP |
VAR_044888
- |
US | - | 0.6778 | Sporadic cancers | |
| 168_HIS | LEU |
VAR_044889
- |
US | - | 0.7531 | Sporadic cancers | |
| 168_HIS | ASN |
VAR_044890
- |
US | - | 0.4148 | Sporadic cancers | |
| 168_HIS | PRO |
VAR_044891
- |
US | - | 0.9646 | Sporadic cancers | |
| 168_HIS | GLN |
VAR_044892
- |
US | - | 0.8384 | Sporadic cancers | |
| 168_HIS | TYR |
VAR_044893
- |
US | - | 0.1263 | Sporadic cancers | |
| 168_HIS | VAL |
VAR_045801
- |
US | - | 0.9113 | A sporadic cancer | |
| 168_HIS | LEU |
ClinVar chr17:7578427 - |
Pathogenic | - | 0.7531 | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 169_MET | ILE |
VAR_005919
- |
US | - | 0.6481 | Sporadic cancers | |
| 169_MET | THR |
VAR_005920
- |
US | - | 0.7014 | Sporadic cancers | |
| 169_MET | LYS |
VAR_044894
- |
US | - | 0.7249 | Sporadic cancers | |
| 169_MET | VAL |
VAR_044895
- |
US | - | 0.1036 | Sporadic cancers | |
| 170_THR | MET |
VAR_005921
rs779000871 |
US | - | 0.2516 | Sporadic cancers | |
| 170_THR | SER |
VAR_005922
- |
US | - | 0.4327 | Sporadic cancers | |
| 170_THR | ALA |
VAR_044896
rs587780729 |
US | - | 0.2803 | Sporadic cancers | |
| 170_THR | LYS |
VAR_044897
- |
US | - | 0.7513 | A sporadic cancer | |
| 170_THR | PRO |
VAR_044898
- |
US | - | 0.6747 | A sporadic cancer | |
| 171_GLU | ALA |
VAR_044899
- |
US | - | 0.8731 | A sporadic cancer | |
| 171_GLU | ASP |
VAR_044900
- |
US | - | 0.3892 | Sporadic cancers | |
| 171_GLU | GLY |
VAR_044901
- |
US | - | 0.9178 | Sporadic cancers | |
| 171_GLU | LYS |
VAR_044902
rs587781845 |
US | - | 0.926 | Sporadic cancers | |
| 171_GLU | GLN |
VAR_044903
- |
US | - | 0.8251 | A sporadic cancer | |
| 171_GLU | VAL |
VAR_044904
- |
US | - | 0.9389 | Sporadic cancers | |
| 171_GLU | TER |
ClinVar chr17:7578419 rs587781845 |
Pathogenic | - | - | Neoplasm of ovary|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 171_GLU | GLY |
ClinVar chr17:7578418 - |
Pathogenic | - | 0.9178 | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 171_GLU | ASP |
ClinVar chr17:7578417 - |
Pathogenic | - | 0.3892 | Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519] | |
| 172_VAL | ALA |
VAR_005923
- |
US | - | 0.7232 | Sporadic cancers | |
| 172_VAL | ASP |
VAR_044905
- |
US | - | 0.9749 | Sporadic cancers | |
| 172_VAL | PHE |
VAR_044906
rs1131691043 |
LP/P | - | 0.9499 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 172_VAL | GLY |
VAR_044907
rs1131691021 |
US | - | 0.8569 | Sporadic cancers | |
| 172_VAL | ILE |
VAR_044908
- |
US | - | 0.1538 | Sporadic cancers | |
| 172_VAL | ILE |
8.3kJPN chr17:7578416 - |
- | 0.0001 | 0.1538 | - | |
| 173_VAL | GLU |
VAR_005924
rs1057519747 |
US | - | 0.9987 | Sporadic cancers | |
| 173_VAL | LEU |
VAR_005925
rs876660754 |
US | - | 0.9942 | Sporadic cancers | |
| 173_VAL | MET |
VAR_005926
rs876660754 |
LP/P | - | 0.9974 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 173_VAL | ALA |
VAR_044909
rs1057519747 |
US | - | 0.9926 | Sporadic cancers | |
| 173_VAL | GLY |
VAR_044910
rs1057519747 |
US | - | 0.9863 | Sporadic cancers | |
| 173_VAL | TRP |
VAR_045802
- |
US | - | 0.9999 | A sporadic cancer | |
| 173_VAL | MET |
ClinVar chr17:7578413 rs876660754 |
Pathogenic | - | 0.9974 | Hereditary cancer-predisposing syndrome|not provided|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Neoplasm of brain|Lung adenocarcinoma|Gastric adenocarcinoma|Li-Fraumeni syndrome|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Adrenal cortex carcinoma|Malignant melanoma of skin|Breast neoplasm|Pancreatic adenocarcinoma|Carcinoma of esophagus|Brainstem glioma|Small cell lung carcinoma|Neoplasm of ovary|Lip and oral cavity carcinoma [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:C0153574|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0023644,MedGen:C0220641] | |
| 173_VAL | ALA |
ClinVar chr17:7578412 rs1057519747 |
Pathogenic/Likely pathogenic | - | 0.9926 | Adrenal cortex carcinoma|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Carcinoma of esophagus|Acute myeloid leukemia|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Brainstem glioma|Malignant melanoma of skin|Small cell lung carcinoma|Gastric adenocarcinoma|Hepatocellular carcinoma|Squamous cell carcinoma of the head and neck|Breast neoplasm|Lung adenocarcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 173_VAL | LEU |
ClinVar chr17:7578413 rs876660754 |
Pathogenic/Likely pathogenic | - | 0.9942 | Lung adenocarcinoma|Malignant melanoma of skin|Breast neoplasm|Brainstem glioma|Malignant neoplasm of body of uterus|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Hepatocellular carcinoma|Small cell lung carcinoma|Gastric adenocarcinoma|Adrenal cortex carcinoma|Neoplasm of ovary|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MedGen:C0153574|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 174_ARG | LYS |
VAR_005927
rs1064796681 |
US | - | 0.1746 | Sporadic cancers | |
| 174_ARG | GLY |
VAR_044911
rs864622115 |
LP/P | - | 0.8976 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 174_ARG | MET |
VAR_044912
- |
US | - | 0.8398 | Sporadic cancers | |
| 174_ARG | SER |
VAR_044913
- |
US | - | 0.9558 | Sporadic cancers | |
| 174_ARG | THR |
VAR_044914
- |
US | - | 0.8583 | A sporadic cancer | |
| 174_ARG | TRP |
VAR_044915
- |
US | - | 0.7385 | Sporadic cancers | |
| 175_ARG | CYS |
VAR_005928
rs138729528 |
US | - | 0.9186 | Sporadic cancers | |
| 175_ARG | GLY |
VAR_005929
rs138729528 |
LP/P | - | 0.9953 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 175_ARG | LEU |
VAR_005930
rs28934578 |
LP/P | - | 0.9907 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 175_ARG | PRO |
VAR_005931
- |
US | - | 0.9906 | Sporadic cancers | |
| 175_ARG | HIS |
VAR_005932
rs28934578 |
LP/P | - | 0.9857 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 175_ARG | GLN |
VAR_044916
- |
US | - | 0.9764 | A sporadic cancer | |
| 175_ARG | SER |
VAR_044917
- |
US | - | 0.9988 | Sporadic cancers | |
| 175_ARG | HIS |
ClinVar chr17:7578406 rs28934578 |
Pathogenic | - | 0.9857 | Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|not provided|Malignant tumor of esophagus|Li-Fraumeni syndrome|Neoplasm|Breast neoplasm|Neoplasm of ovary|Lip and oral cavity carcinoma|Squamous cell carcinoma of the head and neck|Familial cancer of breast|Colorectal cancer|12 conditions|Gastric cancer|Adrenocortical carcinoma, hereditary [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239,Orphanet:99977|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0023644,MedGen:C0220641|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|12 conditions|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 175_ARG | LEU |
ClinVar chr17:7578406 rs28934578 |
Pathogenic/Likely pathogenic | - | 0.9907 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 175_ARG | GLY |
ClinVar chr17:7578407 rs138729528 |
Pathogenic | - | 0.9953 | Neoplasm of the large intestine|Brainstem glioma|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Breast neoplasm|Nasopharyngeal neoplasm|Glioblastoma|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Prostate adenocarcinoma|Neoplasm of brain|Pancreatic adenocarcinoma|Medulloblastoma|Malignant melanoma of skin|Lung adenocarcinoma|Squamous cell lung carcinoma|Gastric adenocarcinoma|B-cell chronic lymphocytic leukemia|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Uterine carcinosarcoma|Gallbladder carcinoma|Neoplasm of ovary|not provided|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C0153574|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0003220,MedGen:C0235782|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 175_ARG | CYS |
8.3kJPN chr17:7578407 rs138729528 |
- | 0.0001 | 0.9186 | - | |
| 176_CYS | PHE |
VAR_005933
rs786202962 |
US | - | 0.999 | Sporadic cancers | |
| 176_CYS | TRP |
VAR_005934
rs1057519980 |
US | - | 0.9993 | Sporadic cancers | |
| 176_CYS | GLY |
VAR_044918
- |
US | - | 0.999 | Sporadic cancers | |
| 176_CYS | ARG |
VAR_044919
- |
US | - | 0.9999 | Sporadic cancers | |
| 176_CYS | SER |
VAR_044920
rs967461896 |
US | - | 0.9997 | Sporadic cancers | |
| 176_CYS | TYR |
VAR_044921
rs786202962 |
US | - | 0.9994 | Sporadic cancers | |
| 176_CYS | TYR |
ClinVar chr17:7578403 rs786202962 |
Pathogenic | - | 0.9994 | Hereditary cancer-predisposing syndrome|not provided|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Hepatocellular carcinoma|Squamous cell lung carcinoma|Neoplasm of brain|Breast neoplasm|Acute myeloid leukemia|Papillary renal cell carcinoma type 1|Carcinoma of esophagus|Neoplasm of the large intestine|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Prostate adenocarcinoma|Pancreatic adenocarcinoma|Li-Fraumeni syndrome|Familial ovarian cancer|Squamous cell carcinoma|Li-Fraumeni syndrome 1|TP53-related condition|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0016248,MedGen:C5679802,Orphanet:213517|Human Phenotype Ontology:HP:0002860,MONDO:MONDO:0005096,MeSH:D002294,MedGen:C0007137|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524||MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 176_CYS | PHE |
ClinVar chr17:7578403 rs786202962 |
Pathogenic/Likely pathogenic | - | 0.999 | Prostate adenocarcinoma|Lung adenocarcinoma|Neoplasm of the large intestine|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Papillary renal cell carcinoma type 1|Pancreatic adenocarcinoma|Breast neoplasm|Squamous cell lung carcinoma|Hepatocellular carcinoma|Neoplasm of brain|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Acute myeloid leukemia|Carcinoma of esophagus|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 176_CYS | TER |
ClinVar chr17:7578402 - |
Pathogenic | - | - | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 177_PRO | LEU |
VAR_005935
rs751477326 |
US | - | 0.9256 | Sporadic cancers | |
| 177_PRO | ARG |
VAR_036505
rs751477326 |
US | - | 0.9661 | Sporadic cancers | |
| 177_PRO | ALA |
VAR_044922
- |
US | - | 0.9442 | A sporadic cancer | |
| 177_PRO | HIS |
VAR_044923
- |
US | - | 0.9769 | Sporadic cancers | |
| 177_PRO | SER |
VAR_044924
rs147002414 |
US | - | 0.9845 | Sporadic cancers | |
| 177_PRO | THR |
VAR_044925
- |
US | - | 0.978 | A sporadic cancer | |
| 177_PRO | PHE |
VAR_045803
- |
US | - | 0.9953 | Sporadic cancers | |
| 177_PRO | ILE |
VAR_045804
- |
US | - | 0.9819 | A sporadic cancer | |
| 177_PRO | ARG |
ClinVar chr17:7578400 rs751477326 |
Pathogenic/Likely pathogenic | - | 0.9661 | Li-Fraumeni syndrome|not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 178_HIS | ASP |
VAR_044926
- |
US | - | 0.9988 | Sporadic cancers | |
| 178_HIS | LEU |
VAR_044927
- |
US | - | 0.9223 | A sporadic cancer | |
| 178_HIS | ASN |
VAR_044928
rs1064795203 |
US | - | 0.9457 | Sporadic cancers | |
| 178_HIS | PRO |
VAR_044929
rs1555526004 |
US | - | 0.9813 | Sporadic cancers | |
| 178_HIS | GLN |
VAR_044930
- |
US | - | 0.9953 | Sporadic cancers | |
| 178_HIS | ARG |
VAR_044931
- |
US | - | 0.9907 | Sporadic cancers | |
| 178_HIS | TYR |
VAR_044932
- |
US | - | 0.9159 | Sporadic cancers | |
| 178_HIS | ASP |
ClinVar chr17:7578398 rs1064795203 |
Likely pathogenic | - | 0.9988 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 178_HIS | GLN |
ClinVar chr17:7578396 rs1555526001 |
Pathogenic/Likely pathogenic | - | 0.9953 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Hereditary breast ovarian cancer syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145] | |
| 178_HIS | GLN |
ClinVar chr17:7578396 rs1555526001 |
Pathogenic/Likely pathogenic | - | 0.9953 | Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 179_HIS | ASP |
VAR_044933
rs587780070 |
US | - | 0.9985 | Sporadic cancers | |
| 179_HIS | LEU |
VAR_044934
rs1057519991 |
US | - | 0.996 | Sporadic cancers | |
| 179_HIS | ASN |
VAR_044935
rs587780070 |
US | - | 0.9987 | Sporadic cancers | |
| 179_HIS | PRO |
VAR_044936
rs1057519991 |
US | - | 0.9947 | Sporadic cancers | |
| 179_HIS | GLN |
VAR_044937
rs876660821 |
US | - | 0.999 | Sporadic cancers | |
| 179_HIS | ARG |
VAR_044938
rs1057519991 |
US | - | 0.9963 | Sporadic cancers | |
| 179_HIS | TYR |
VAR_044939
rs587780070 |
LP/P | - | 0.9976 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 179_HIS | TYR |
ClinVar chr17:7578395 rs587780070 |
Pathogenic/Likely pathogenic | - | 0.9976 | not provided|Glioblastoma|Squamous cell lung carcinoma|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Gastric adenocarcinoma|Uterine carcinosarcoma|Acute myeloid leukemia|Breast neoplasm|Squamous cell carcinoma of the skin|Pancreatic adenocarcinoma|Malignant melanoma of skin|Malignant neoplasm of body of uterus|Gallbladder carcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Lung adenocarcinoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary [MedGen:C3661900|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MedGen:C0153574|MONDO:MONDO:0003220,MedGen:C0235782|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 179_HIS | GLN |
ClinVar chr17:7578393 rs876660821 |
Pathogenic/Likely pathogenic | - | 0.999 | Acute myeloid leukemia|Squamous cell carcinoma of the skin|Squamous cell lung carcinoma|Gallbladder carcinoma|Malignant melanoma of skin|Gastric adenocarcinoma|Neoplasm of brain|Glioblastoma|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Small cell lung carcinoma|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Uterine carcinosarcoma|Breast neoplasm|Hepatocellular carcinoma|Carcinoma of esophagus|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0003220,MedGen:C0235782|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MedGen:C0153574|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 179_HIS | GLN |
ClinVar chr17:7578393 rs876660821 |
Pathogenic | - | 0.999 | Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Acute myeloid leukemia [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519] | |
| 180_GLU | ALA |
VAR_044940
- |
US | - | 0.8966 | A sporadic cancer | |
| 180_GLU | ASP |
VAR_044941
- |
US | - | 0.9843 | Sporadic cancers | |
| 180_GLU | GLY |
VAR_044942
- |
US | - | 0.9391 | A sporadic cancer | |
| 180_GLU | LYS |
VAR_044943
rs879253911 |
LP/P | - | 0.9545 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 180_GLU | GLN |
VAR_044944
- |
US | - | 0.6972 | Sporadic cancers | |
| 180_GLU | VAL |
VAR_044945
- |
US | - | 0.9619 | A sporadic cancer | |
| 180_GLU | LYS |
ClinVar chr17:7578392 rs879253911 |
Likely pathogenic | - | 0.9545 | not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 180_GLU | TER |
ClinVar chr17:7578392 rs879253911 |
Pathogenic | - | - | Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000] | |
| 181_ARG | LEU |
VAR_005937
rs397514495 |
US | - | 0.7789 | A familial cancer not matching LFS | |
| 181_ARG | CYS |
VAR_044946
rs587782596 |
LP/P | - | 0.7821 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 181_ARG | GLY |
VAR_044947
- |
US | - | 0.8319 | Sporadic cancers | |
| 181_ARG | HIS |
VAR_044948
rs397514495 |
LP/P | - | 0.5897 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 181_ARG | PRO |
VAR_044949
- |
US | - | 0.9881 | A familial cancer not matching LFS | |
| 181_ARG | SER |
VAR_044950
rs587782596 |
US | - | 0.9524 | Sporadic cancers | |
| 181_ARG | PRO |
ClinVar chr17:7578388 rs397514495 |
Pathogenic/Likely pathogenic | - | 0.9881 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 182_CYS | SER |
VAR_005938
- |
US | - | 0.1432 | Sporadic cancers | |
| 182_CYS | ARG |
VAR_044951
- |
US | - | 0.577 | Sporadic cancers | |
| 182_CYS | TYR |
VAR_044952
- |
US | - | 0.4342 | Sporadic cancers | |
| 183_SER | LEU |
VAR_044953
rs1555525970 |
US | - | 0.1353 | Sporadic cancers | |
| 183_SER | PRO |
VAR_044954
- |
US | - | 0.1431 | Sporadic cancers | |
| 183_SER | TER |
ClinVar chr17:7578382 rs1555525970 |
Pathogenic | - | - | Neoplasm of ovary|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 183_SER | SER |
ClinVar chr17:7578381 - |
Pathogenic | - | - | Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519] | |
| 184_ASP | TYR |
VAR_005939
- |
US | - | 0.451 | Sporadic cancers | |
| 184_ASP | GLY |
VAR_044955
rs1060501209 |
US | - | 0.2792 | Sporadic cancers | |
| 184_ASP | HIS |
VAR_044956
- |
US | - | 0.5343 | Sporadic cancers | |
| 184_ASP | VAL |
VAR_044957
- |
US | - | 0.3933 | Sporadic cancers | |
| 184_ASP | ASN |
VAR_047169
rs72661117 |
US | - | 0.1931 | Sporadic cancers | |
| 185_SER | CYS |
VAR_044958
- |
US | - | 0.1144 | A sporadic cancer | |
| 185_SER | GLY |
VAR_044959
- |
US | - | 0.0635 | Sporadic cancers | |
| 185_SER | ILE |
VAR_044960
- |
US | - | 0.2053 | Sporadic cancers | |
| 185_SER | ASN |
VAR_044961
rs150607408 |
US | - | 0.0957 | A sporadic cancer | |
| 185_SER | ARG |
VAR_044962
- |
US | - | 0.6104 | Sporadic cancers | |
| 185_SER | THR |
VAR_044963
- |
US | - | 0.0858 | A sporadic cancer | |
| 186_ASP | TYR |
VAR_005940
- |
US | - | 0.7262 | A sporadic cancer | |
| 186_ASP | GLU |
VAR_044964
rs375275361 |
US | - | 0.4078 | A sporadic cancer | |
| 186_ASP | GLY |
VAR_044965
- |
US | - | 0.5048 | Sporadic cancers | |
| 186_ASP | HIS |
VAR_044966
- |
US | - | 0.803 | Sporadic cancers | |
| 186_ASP | ASN |
VAR_044967
rs1060501206 |
US | - | 0.3448 | Sporadic cancers | |
| 186_ASP | VAL |
VAR_044968
- |
US | - | 0.7499 | Sporadic cancers | |
| 187_GLY | CYS |
VAR_005941
- |
US | - | 0.2974 | Sporadic cancers | |
| 187_GLY | SER |
VAR_005942
rs776167460 |
US | - | 0.1262 | Sporadic cancers | |
| 187_GLY | ASP |
VAR_044969
- |
US | - | 0.4916 | Sporadic cancers | |
| 187_GLY | ARG |
VAR_044970
- |
US | - | 0.6489 | Sporadic cancers | |
| 187_GLY | VAL |
VAR_044971
- |
US | - | 0.3175 | Sporadic cancers | |
| 187_GLY | ASN |
VAR_045805
- |
US | - | 0.3905 | A sporadic cancer | |
| 188_LEU | PRO |
VAR_044972
rs1199893366 |
US | - | 0.1339 | A sporadic cancer | |
| 188_LEU | VAL |
VAR_044973
- |
US | - | 0.1186 | Sporadic cancers | |
| 189_ALA | PRO |
VAR_005943
- |
US | - | 0.7205 | Sporadic cancers | |
| 189_ALA | ASP |
VAR_044974
- |
US | - | 0.9857 | A sporadic cancer | |
| 189_ALA | GLY |
VAR_044975
- |
US | - | 0.6979 | Sporadic cancers | |
| 189_ALA | SER |
VAR_044976
rs1555525921 |
US | - | 0.3994 | A sporadic cancer | |
| 189_ALA | THR |
VAR_044977
- |
US | - | 0.7003 | Sporadic cancers | |
| 189_ALA | VAL |
VAR_044978
rs121912665 |
US | - | 0.5887 | A familial cancer not matching LFS | |
| 189_ALA | VAL |
8.3kJPN chr17:7578283 rs121912665 |
- | 0.0021 | 0.5887 | - | |
| 190_PRO | LEU |
VAR_005944
rs876660825 |
US | - | 0.7083 | Sporadic cancers | |
| 190_PRO | ALA |
VAR_044979
- |
US | - | 0.4869 | Sporadic cancers | |
| 190_PRO | HIS |
VAR_044980
- |
US | - | 0.7649 | A sporadic cancer | |
| 190_PRO | ARG |
VAR_044981
rs876660825 |
US | - | 0.8268 | Sporadic cancers | |
| 190_PRO | SER |
VAR_044982
- |
US | - | 0.6927 | Sporadic cancers | |
| 190_PRO | THR |
VAR_044983
rs876660254 |
US | - | 0.8083 | Sporadic cancers | |
| 190_PRO | LEU |
ClinVar chr17:7578280 rs876660825 |
Likely pathogenic | - | 0.7083 | not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 191_PRO | THR |
VAR_005945
- |
US | - | 0.5102 | Sporadic cancers | |
| 191_PRO | HIS |
VAR_044984
rs587778718 |
US | - | 0.6467 | Sporadic cancers | |
| 191_PRO | LEU |
VAR_044985
rs587778718 |
US | - | 0.5851 | Sporadic cancers | |
| 191_PRO | ARG |
VAR_044986
rs587778718 |
US | - | 0.5246 | Sporadic cancers | |
| 191_PRO | SER |
VAR_044987
rs868590738 |
US | - | 0.3445 | Sporadic cancers | |
| 192_GLN | ARG |
VAR_005946
rs730882002 |
US | - | 0.2727 | Sporadic cancers | |
| 192_GLN | HIS |
VAR_044988
- |
US | - | 0.3598 | Sporadic cancers | |
| 192_GLN | LYS |
VAR_044989
- |
US | - | 0.2843 | A sporadic cancer | |
| 192_GLN | LEU |
VAR_044990
- |
US | - | 0.3186 | Sporadic cancers | |
| 192_GLN | PRO |
VAR_044991
- |
US | - | 0.3204 | Sporadic cancers | |
| 192_GLN | TER |
ClinVar chr17:7578275 rs866380588 |
Pathogenic | - | - | Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0007254,MedGen:C0006142|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 193_HIS | ASP |
VAR_005947
rs876658468 |
US | - | 0.998 | Sporadic cancers | |
| 193_HIS | ARG |
VAR_005948
rs786201838 |
LP/P | - | 0.9982 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 193_HIS | LEU |
VAR_044992
rs786201838 |
US | - | 0.9942 | Sporadic cancers | |
| 193_HIS | ASN |
VAR_044993
rs876658468 |
US | - | 0.9845 | Sporadic cancers | |
| 193_HIS | PRO |
VAR_044994
rs786201838 |
US | - | 0.9975 | Sporadic cancers | |
| 193_HIS | GLN |
VAR_044995
- |
US | - | 0.9979 | Sporadic cancers | |
| 193_HIS | TYR |
VAR_044996
rs876658468 |
US | - | 0.9627 | Sporadic cancers | |
| 193_HIS | ARG |
ClinVar chr17:7578271 rs786201838 |
Pathogenic/Likely pathogenic | - | 0.9982 | Hereditary cancer-predisposing syndrome|not provided|Breast neoplasm|Gastric adenocarcinoma|Lung adenocarcinoma|Uterine carcinosarcoma|B-cell chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Prostate adenocarcinoma|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Brainstem glioma|Ovarian serous cystadenocarcinoma|Acute myeloid leukemia|Hepatocellular carcinoma|Neoplasm of the large intestine|Squamous cell lung carcinoma|Papillary renal cell carcinoma, sporadic|Malignant neoplasm of body of uterus|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MeSH:C538614,MedGen:C1336078|MedGen:C0153574|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 193_HIS | TYR |
ClinVar chr17:7578272 rs876658468 |
Pathogenic/Likely pathogenic | - | 0.9627 | Hereditary cancer-predisposing syndrome|Gastric adenocarcinoma|Neoplasm of the large intestine|Squamous cell lung carcinoma|B-cell chronic lymphocytic leukemia|Small cell lung carcinoma|Neoplasm of brain|Uterine carcinosarcoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|not provided|Pancreatic adenocarcinoma|Papillary renal cell carcinoma, sporadic|Hepatocellular carcinoma|Squamous cell carcinoma of the head and neck|Brainstem glioma|Malignant neoplasm of body of uterus|Prostate adenocarcinoma|Lung adenocarcinoma|Carcinoma of esophagus|Acute myeloid leukemia|Breast neoplasm|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Malignant tumor of urinary bladder [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|MedGen:C3661900|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MedGen:C0153574|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980] | |
| 193_HIS | PRO |
ClinVar chr17:7578271 rs786201838 |
Pathogenic | - | 0.9975 | Prostate adenocarcinoma|Neoplasm of the large intestine|Squamous cell lung carcinoma|Carcinoma of esophagus|Small cell lung carcinoma|Pancreatic adenocarcinoma|Papillary renal cell carcinoma, sporadic|Acute myeloid leukemia|Brainstem glioma|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Neoplasm of brain|B-cell chronic lymphocytic leukemia|Transitional cell carcinoma of the bladder|Uterine carcinosarcoma|Breast neoplasm|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Hepatocellular carcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C0153574|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 193_HIS | ASN |
ClinVar chr17:7578272 rs876658468 |
Likely pathogenic | - | 0.9845 | Lung adenocarcinoma|Pancreatic adenocarcinoma|Transitional cell carcinoma of the bladder|Papillary renal cell carcinoma, sporadic|Uterine carcinosarcoma|Squamous cell carcinoma of the head and neck|Brainstem glioma|Small cell lung carcinoma|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|B-cell chronic lymphocytic leukemia|Hepatocellular carcinoma|Breast neoplasm|Acute myeloid leukemia|Prostate adenocarcinoma|Malignant neoplasm of body of uterus|Neoplasm of brain|Gastric adenocarcinoma|Neoplasm of the large intestine|Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MeSH:C538614,MedGen:C1336078|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0005082,MedGen:C0007112|MedGen:C0153574|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782] | |
| 193_HIS | GLN |
ClinVar chr17:7578270 rs1597368777 |
Likely pathogenic | - | 0.9979 | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 194_LEU | PRO |
VAR_005949
rs1057519998 |
US | - | 0.9989 | Sporadic cancers | |
| 194_LEU | ARG |
VAR_005950
rs1057519998 |
US | - | 0.9952 | Sporadic cancers | |
| 194_LEU | PHE |
VAR_044997
rs587780071 |
US | - | 0.9428 | Sporadic cancers | |
| 194_LEU | HIS |
VAR_044998
rs1057519998 |
US | - | 0.9974 | Sporadic cancers | |
| 194_LEU | ILE |
VAR_044999
- |
US | - | 0.5835 | Sporadic cancers | |
| 194_LEU | VAL |
VAR_045000
- |
US | - | 0.7109 | Sporadic cancers | |
| 194_LEU | PHE |
ClinVar chr17:7578269 rs587780071 |
Pathogenic/Likely pathogenic | - | 0.9428 | not provided|Breast neoplasm|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|Hepatocellular carcinoma|Neoplasm of uterine cervix|Neoplasm of brain|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Glioblastoma|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MedGen:C3661900|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 195_ILE | THR |
VAR_005951
rs760043106 |
US | - | 0.9962 | Sporadic cancers | |
| 195_ILE | PHE |
VAR_045001
rs942158624 |
US | - | 0.9288 | Sporadic cancers | |
| 195_ILE | ASN |
VAR_045002
rs760043106 |
US | - | 0.998 | Sporadic cancers | |
| 195_ILE | SER |
VAR_045003
rs760043106 |
US | - | 0.9967 | Sporadic cancers | |
| 195_ILE | VAL |
VAR_045004
- |
US | - | 0.4167 | A sporadic cancer | |
| 195_ILE | TYR |
VAR_045806
- |
US | - | 0.9948 | A sporadic cancer | |
| 195_ILE | LEU |
VAR_047172
- |
US | - | 0.2338 | A sporadic cancer | |
| 196_ARG | GLY |
VAR_045005
rs397516435 |
US | - | 0.9907 | Sporadic cancers | |
| 196_ARG | LEU |
VAR_045006
rs483352697 |
US | - | 0.9763 | Sporadic cancers | |
| 196_ARG | PRO |
VAR_045007
rs483352697 |
LP/P | - | 0.9985 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 196_ARG | GLN |
VAR_045008
rs483352697 |
US | - | 0.8076 | Sporadic cancers | |
| 196_ARG | SER |
VAR_045009
- |
US | - | 0.9935 | A sporadic cancer | |
| 196_ARG | TER |
ClinVar chr17:7578263 rs397516435 |
Pathogenic | - | - | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Neoplasm of ovary|Li-Fraumeni syndrome 1|not specified|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:CN169374|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 196_ARG | PRO |
ClinVar chr17:7578262 rs483352697 |
Pathogenic/Likely pathogenic | - | 0.9985 | Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the skin|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Papillary renal cell carcinoma type 1|Carcinoma of esophagus|Small cell lung carcinoma|Gastric adenocarcinoma|Glioblastoma|Breast neoplasm|Squamous cell lung carcinoma|Neoplasm of brain|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|Malignant melanoma of skin|Multiple myeloma|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 197_VAL | GLU |
VAR_045010
- |
US | - | 0.9891 | A familial cancer not matching LFS | |
| 197_VAL | GLY |
VAR_045011
- |
US | - | 0.9 | Sporadic cancers | |
| 197_VAL | LEU |
VAR_045012
rs786204041 |
US | - | 0.9179 | Sporadic cancers | |
| 197_VAL | MET |
VAR_045013
rs786204041 |
LP/P | - | 0.8149 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 198_GLU | LYS |
VAR_005952
- |
US | - | 0.9619 | Sporadic cancers | |
| 198_GLU | ASP |
VAR_045014
- |
US | - | 0.9126 | A sporadic cancer | |
| 198_GLU | GLY |
VAR_045015
- |
US | - | 0.8918 | Sporadic cancers | |
| 198_GLU | GLN |
VAR_045016
- |
US | - | 0.8704 | Sporadic cancers | |
| 198_GLU | VAL |
VAR_045017
- |
US | - | 0.9698 | A sporadic cancer | |
| 198_GLU | TER |
ClinVar chr17:7578257 rs1567551854 |
Pathogenic | - | - | Neoplasm of ovary|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 199_GLY | ALA |
VAR_045018
- |
US | - | 0.7779 | A sporadic cancer | |
| 199_GLY | GLU |
VAR_045019
- |
US | - | 0.9647 | Sporadic cancers | |
| 199_GLY | ARG |
VAR_045020
- |
US | - | 0.9824 | Sporadic cancers | |
| 199_GLY | VAL |
VAR_045021
rs1555525857 |
US | - | 0.9687 | Sporadic cancers | |
| 199_GLY | VAL |
ClinVar chr17:7578253 rs1555525857 |
Likely pathogenic | - | 0.9687 | not provided [MedGen:CN517202] | |
| 199_GLY | TER |
ClinVar chr17:7578254 rs1567551821 |
Pathogenic | - | - | Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000] | |
| 200_ASN | ASP |
VAR_045022
- |
US | - | 0.7248 | Sporadic cancers | |
| 200_ASN | ILE |
VAR_045023
- |
US | - | 0.8104 | Sporadic cancers | |
| 200_ASN | LYS |
VAR_045024
- |
US | - | 0.9759 | A sporadic cancer | |
| 200_ASN | SER |
VAR_045025
- |
US | - | 0.2322 | Sporadic cancers | |
| 200_ASN | THR |
VAR_045026
- |
US | - | 0.6728 | A sporadic cancer | |
| 200_ASN | PRO |
VAR_045807
- |
US | - | 0.9559 | A sporadic cancer | |
| 201_LEU | PHE |
VAR_045027
rs730882024 |
US | - | 0.1485 | Sporadic cancers | |
| 201_LEU | PRO |
VAR_045028
- |
US | - | 0.0876 | A sporadic cancer | |
| 201_LEU | SER |
VAR_045029
- |
US | - | 0.1323 | A sporadic cancer | |
| 202_ARG | CYS |
VAR_045030
rs587780072 |
US | - | 0.116 | Sporadic cancers | |
| 202_ARG | GLY |
VAR_045031
rs587780072 |
US | - | 0.1515 | Sporadic cancers | |
| 202_ARG | HIS |
VAR_045032
rs587778719 |
US | - | 0.0714 | Sporadic cancers | |
| 202_ARG | LEU |
VAR_045033
rs587778719 |
US | - | 0.1554 | Sporadic cancers | |
| 202_ARG | PRO |
VAR_045034
- |
US | - | 0.5449 | Sporadic cancers | |
| 202_ARG | SER |
VAR_045035
- |
US | - | 0.28 | Sporadic cancers | |
| 203_VAL | ALA |
VAR_045036
- |
US | - | 0.1 | Sporadic cancers | |
| 203_VAL | GLU |
VAR_045037
- |
US | - | 0.8955 | Sporadic cancers | |
| 203_VAL | LEU |
VAR_045038
- |
US | - | 0.7401 | Sporadic cancers | |
| 203_VAL | MET |
VAR_045039
rs730882003 |
US | - | 0.5787 | Sporadic cancers | |
| 203_VAL | TRP |
VAR_045808
- |
US | - | 0.9909 | A sporadic cancer | |
| 204_GLU | ALA |
VAR_045040
- |
US | - | 0.2159 | Sporadic cancers | |
| 204_GLU | ASP |
VAR_045041
- |
US | - | 0.1919 | Sporadic cancers | |
| 204_GLU | GLY |
VAR_045042
rs1260903787 |
US | - | 0.394 | Sporadic cancers | |
| 204_GLU | LYS |
VAR_045043
- |
US | - | 0.2764 | Sporadic cancers | |
| 204_GLU | GLN |
VAR_045044
- |
US | - | 0.1258 | A sporadic cancer | |
| 204_GLU | VAL |
VAR_045045
- |
US | - | 0.3037 | A sporadic cancer | |
| 204_GLU | TER |
ClinVar chr17:7578239 rs2073336758 |
Pathogenic | - | - | Lip and oral cavity carcinoma|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0023644,MedGen:C0220641|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 205_TYR | CYS |
VAR_005953
rs1057520007 |
US | - | 0.9974 | Sporadic cancers | |
| 205_TYR | ASP |
VAR_005954
rs1057520008 |
US | - | 0.9971 | Sporadic cancers | |
| 205_TYR | HIS |
VAR_045046
rs1057520008 |
US | - | 0.9986 | Sporadic cancers | |
| 205_TYR | ASN |
VAR_045047
rs1057520008 |
US | - | 0.9856 | Sporadic cancers | |
| 205_TYR | SER |
VAR_045048
rs1057520007 |
US | - | 0.9955 | Sporadic cancers | |
| 205_TYR | PHE |
VAR_047175
rs1057520007 |
US | - | 0.787 | Sporadic cancers | |
| 205_TYR | TER |
ClinVar chr17:7578234 rs786202222 |
Pathogenic | - | - | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 205_TYR | CYS |
ClinVar chr17:7578235 rs1057520007 |
Pathogenic | - | 0.9974 | Hepatocellular carcinoma|Papillary renal cell carcinoma type 1|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Non-Hodgkin lymphoma|Uterine carcinosarcoma|Glioblastoma|Breast neoplasm|Malignant neoplasm of body of uterus|Squamous cell lung carcinoma|Multiple myeloma|Lung adenocarcinoma|Pancreatic adenocarcinoma|Carcinoma of esophagus|Neoplasm of brain|Neoplasm of the large intestine|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C0153574|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 205_TYR | PHE |
ClinVar chr17:7578235 rs1057520007 |
Likely pathogenic | - | 0.787 | Non-Hodgkin lymphoma|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Breast neoplasm|Ovarian serous cystadenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of brain|Squamous cell lung carcinoma|Glioblastoma|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Multiple myeloma|Hepatocellular carcinoma|Uterine carcinosarcoma|Neoplasm of the large intestine [Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404] | |
| 205_TYR | SER |
ClinVar chr17:7578235 rs1057520007 |
Likely pathogenic | - | 0.9955 | Glioblastoma|Squamous cell carcinoma of the head and neck|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Carcinoma of esophagus|Breast neoplasm|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Non-Hodgkin lymphoma|Multiple myeloma|Neoplasm of brain|Squamous cell lung carcinoma|Hepatocellular carcinoma|Uterine carcinosarcoma|Pancreatic adenocarcinoma|Neoplasm of the large intestine [MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404] | |
| 205_TYR | HIS |
ClinVar chr17:7578236 rs1057520008 |
Pathogenic/Likely pathogenic | - | 0.9986 | Pancreatic adenocarcinoma|Multiple myeloma|Neoplasm of brain|Carcinoma of esophagus|Glioblastoma|Lung adenocarcinoma|Non-Hodgkin lymphoma|Uterine carcinosarcoma|Hepatocellular carcinoma|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Breast neoplasm|Neoplasm of the large intestine|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 205_TYR | TER |
ClinVar chr17:7578234 rs786202222 |
Pathogenic | - | - | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 206_LEU | PHE |
VAR_045049
- |
US | - | 0.1276 | A sporadic cancer | |
| 206_LEU | MET |
VAR_045050
- |
US | - | 0.0836 | A sporadic cancer | |
| 207_ASP | GLU |
VAR_045051
- |
US | - | 0.2799 | Sporadic cancers | |
| 207_ASP | GLY |
VAR_045052
- |
US | - | 0.5033 | Sporadic cancers | |
| 207_ASP | HIS |
VAR_045053
- |
US | - | 0.6425 | Sporadic cancers | |
| 207_ASP | ASN |
VAR_045054
rs923100890 |
US | - | 0.267 | Sporadic cancers | |
| 207_ASP | VAL |
VAR_045055
- |
US | - | 0.5058 | A sporadic cancer | |
| 207_ASP | TYR |
VAR_045056
- |
US | - | 0.5888 | A sporadic cancer | |
| 208_ASP | GLU |
VAR_045057
- |
US | - | 0.9192 | Sporadic cancers | |
| 208_ASP | GLY |
VAR_045058
- |
US | - | 0.9278 | Sporadic cancers | |
| 208_ASP | HIS |
VAR_045059
- |
US | - | 0.9284 | A sporadic cancer | |
| 208_ASP | ASN |
VAR_045060
- |
US | - | 0.5927 | Sporadic cancers | |
| 208_ASP | VAL |
VAR_045061
rs1464727668 |
US | - | 0.9529 | Sporadic cancers | |
| 208_ASP | TYR |
VAR_045062
- |
US | - | 0.948 | A sporadic cancer | |
| 208_ASP | ILE |
VAR_045809
- |
US | - | 0.9852 | A sporadic cancer | |
| 209_ARG | ILE |
VAR_045063
- |
US | - | 0.1491 | Sporadic cancers | |
| 209_ARG | LYS |
VAR_045064
- |
US | - | 0.0655 | Sporadic cancers | |
| 209_ARG | SER |
VAR_045065
- |
US | - | 0.1899 | A sporadic cancer | |
| 209_ARG | THR |
VAR_045066
- |
US | - | 0.1071 | Sporadic cancers | |
| 210_ASN | ASP |
VAR_045067
- |
US | - | 0.1612 | Sporadic cancers | |
| 210_ASN | HIS |
VAR_045068
- |
US | - | 0.0826 | Sporadic cancers | |
| 210_ASN | ILE |
VAR_045069
- |
US | - | 0.1668 | A sporadic cancer | |
| 210_ASN | LYS |
VAR_045070
- |
US | - | 0.2679 | A sporadic cancer | |
| 210_ASN | SER |
VAR_045071
- |
US | - | 0.0892 | Sporadic cancers | |
| 210_ASN | THR |
VAR_045072
- |
US | - | 0.0949 | A sporadic cancer | |
| 210_ASN | TYR |
VAR_045073
rs1060501200 |
US | - | 0.1341 | A familial cancer not matching LFS | |
| 211_THR | ALA |
VAR_045074
rs1060501198 |
US | - | 0.7434 | Sporadic cancers | |
| 211_THR | ILE |
VAR_045075
- |
US | - | 0.974 | Sporadic cancers | |
| 211_THR | ASN |
VAR_045076
- |
US | - | 0.4866 | Sporadic cancers | |
| 211_THR | PRO |
VAR_045077
- |
US | - | 0.8468 | A sporadic cancer | |
| 211_THR | SER |
VAR_045078
- |
US | - | 0.295 | Sporadic cancers | |
| 212_PHE | ILE |
VAR_045079
rs1064795766 |
US | - | 0.5688 | Sporadic cancers | |
| 212_PHE | LEU |
VAR_045080
- |
US | - | 0.7743 | Sporadic cancers | |
| 212_PHE | SER |
VAR_045081
- |
US | - | 0.3508 | Sporadic cancers | |
| 212_PHE | VAL |
VAR_045082
- |
US | - | 0.4369 | A sporadic cancer | |
| 212_PHE | TYR |
VAR_045083
- |
US | - | 0.135 | Sporadic cancers | |
| 213_ARG | GLN |
VAR_005955
rs587778720 |
LP/P | - | 0.9561 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 213_ARG | PRO |
VAR_036506
rs587778720 |
LP/P | - | 0.9986 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 213_ARG | GLY |
VAR_045084
rs397516436 |
US | - | 0.9955 | Sporadic cancers | |
| 213_ARG | LEU |
VAR_045085
rs587778720 |
US | - | 0.9906 | Sporadic cancers | |
| 213_ARG | TRP |
VAR_045086
- |
US | - | 0.9479 | Sporadic cancers | |
| 213_ARG | TER |
ClinVar chr17:7578212 rs397516436 |
Pathogenic | - | - | Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|not provided|Neoplasm of ovary|Squamous cell carcinoma of the head and neck|Familial cancer of breast|Colorectal cancer [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500] | |
| 213_ARG | GLN |
ClinVar chr17:7578211 rs587778720 |
Pathogenic | - | 0.9561 | not specified|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the skin|Glioblastoma|Carcinoma of esophagus|Neoplasm of the large intestine|Adrenal cortex carcinoma|Papillary renal cell carcinoma type 1|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Neoplasm of brain|Pancreatic adenocarcinoma|not provided|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Malignant melanoma of skin|Uterine carcinosarcoma|Prostate adenocarcinoma|Lung adenocarcinoma|Nasopharyngeal neoplasm|Transitional cell carcinoma of the bladder|Breast neoplasm|Squamous cell lung carcinoma|Malignant neoplasm of body of uterus|Adenoid cystic carcinoma|Poly (ADP-Ribose) polymerase inhibitor response|Lip and oral cavity carcinoma|Breast and/or ovarian cancer|Adrenocortical carcinoma, hereditary [MedGen:CN169374|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MedGen:C3661900|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MedGen:C0153574|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MedGen:CN322715|MONDO:MONDO:0023644,MedGen:C0220641|MedGen:CN221562|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 213_ARG | PRO |
ClinVar chr17:7578211 rs587778720 |
Pathogenic/Likely pathogenic | - | 0.9986 | Hereditary cancer-predisposing syndrome|Malignant melanoma of skin|Adrenal cortex carcinoma|Nasopharyngeal neoplasm|Neoplasm of the large intestine|Squamous cell carcinoma of the skin|Ovarian serous cystadenocarcinoma|Breast neoplasm|Prostate adenocarcinoma|Squamous cell lung carcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Hepatocellular carcinoma|Adenoid cystic carcinoma|Papillary renal cell carcinoma type 1|Uterine carcinosarcoma|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Glioblastoma|Pancreatic adenocarcinoma|Carcinoma of esophagus|Malignant neoplasm of body of uterus|not specified|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MedGen:C0153574|MedGen:CN169374|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 214_HIS | ASP |
VAR_045087
- |
US | - | 0.9861 | Sporadic cancers | |
| 214_HIS | PRO |
VAR_045088
rs1057519992 |
US | - | 0.9774 | A sporadic cancer | |
| 214_HIS | ARG |
VAR_045089
rs1057519992 |
US | - | 0.9451 | Sporadic cancers | |
| 214_HIS | TYR |
VAR_045090
- |
US | - | 0.8018 | Sporadic cancers | |
| 214_HIS | GLN |
VAR_047177
rs587781386 |
US | - | 0.7704 | Sporadic cancers | |
| 214_HIS | ARG |
ClinVar chr17:7578208 rs1057519992 |
Likely pathogenic | - | 0.9451 | Papillary renal cell carcinoma type 1|Squamous cell lung carcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|B-cell chronic lymphocytic leukemia|Glioblastoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided [Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900] | |
| 215_SER | CYS |
VAR_045091
- |
US | - | 0.4744 | Sporadic cancers | |
| 215_SER | GLY |
VAR_045092
rs886039484 |
US | - | 0.8417 | Sporadic cancers | |
| 215_SER | ILE |
VAR_045093
rs587782177 |
US | - | 0.984 | Sporadic cancers | |
| 215_SER | ASN |
VAR_045094
rs587782177 |
US | - | 0.9616 | Sporadic cancers | |
| 215_SER | ARG |
VAR_045095
rs1057520001 |
US | - | 0.998 | Sporadic cancers | |
| 215_SER | THR |
VAR_045096
rs587782177 |
US | - | 0.7415 | Sporadic cancers | |
| 215_SER | LYS |
VAR_045810
- |
US | - | 0.9993 | Sporadic cancers | |
| 216_VAL | MET |
VAR_005956
rs730882025 |
US | - | 0.9421 | Sporadic cancers | |
| 216_VAL | ALA |
VAR_045097
- |
US | - | 0.7484 | Sporadic cancers | |
| 216_VAL | GLU |
VAR_045098
rs1057520004 |
US | - | 0.9979 | Sporadic cancers | |
| 216_VAL | GLY |
VAR_045099
rs1057520004 |
US | - | 0.9564 | Sporadic cancers | |
| 216_VAL | LEU |
VAR_045100
rs730882025 |
US | - | 0.9153 | Sporadic cancers | |
| 216_VAL | TRP |
VAR_045811
- |
US | - | 0.9998 | A sporadic cancer | |
| 216_VAL | MET |
ClinVar chr17:7578203 rs730882025 |
Pathogenic/Likely pathogenic | - | 0.9421 | not provided|Li-Fraumeni syndrome|Breast neoplasm|Ovarian serous cystadenocarcinoma|Pancreatic adenocarcinoma|Carcinoma of esophagus|Neoplasm of brain|Squamous cell lung carcinoma|Lung adenocarcinoma|Glioblastoma|Squamous cell carcinoma of the head and neck|Squamous cell carcinoma of the skin|not specified|Uterine carcinosarcoma|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Adrenocortical carcinoma, hereditary [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MedGen:CN169374|MONDO:MONDO:0006485,MedGen:C0280630|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 217_VAL | ALA |
VAR_045101
- |
US | - | 0.3266 | Sporadic cancers | |
| 217_VAL | GLU |
VAR_045102
- |
US | - | 0.8706 | Sporadic cancers | |
| 217_VAL | GLY |
VAR_045103
- |
US | - | 0.7 | Sporadic cancers | |
| 217_VAL | ILE |
VAR_045104
- |
US | - | 0.1097 | A sporadic cancer | |
| 217_VAL | LEU |
VAR_045105
- |
US | - | 0.3919 | Sporadic cancers | |
| 217_VAL | MET |
VAR_047178
rs35163653 |
LB/B | - | 0.3012 | - | |
| 218_VAL | ALA |
VAR_045106
- |
US | - | 0.8565 | Sporadic cancers | |
| 218_VAL | GLU |
VAR_045107
- |
US | - | 0.99 | Sporadic cancers | |
| 218_VAL | GLY |
VAR_045108
rs1555525743 |
US | - | 0.9144 | Sporadic cancers | |
| 218_VAL | LEU |
VAR_045109
- |
US | - | 0.7135 | Sporadic cancers | |
| 218_VAL | MET |
VAR_045110
rs878854072 |
US | - | 0.7748 | Sporadic cancers | |
| 218_VAL | GLU |
ClinVar chr17:7578196 - |
Likely pathogenic | - | 0.99 | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 219_PRO | HIS |
VAR_045111
- |
US | - | 0.7211 | A sporadic cancer | |
| 219_PRO | LEU |
VAR_045112
rs1420675064 |
US | - | 0.4909 | Sporadic cancers | |
| 219_PRO | ARG |
VAR_045113
- |
US | - | 0.6961 | A sporadic cancer | |
| 219_PRO | SER |
VAR_045114
rs879253894 |
US | - | 0.5148 | A familial cancer not matching LFS | |
| 219_PRO | THR |
VAR_045115
- |
US | - | 0.5899 | Sporadic cancers | |
| 219_PRO | CYS |
VAR_045812
- |
US | - | 0.8789 | A sporadic cancer | |
| 220_TYR | CYS |
VAR_005957
rs121912666 |
LP/P | - | 0.8515 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 220_TYR | HIS |
VAR_005958
rs530941076 |
US | - | 0.9633 | Sporadic cancers | |
| 220_TYR | SER |
VAR_005959
rs121912666 |
US | - | 0.9754 | A brain tumor with no family history | |
| 220_TYR | ASP |
VAR_045116
rs530941076 |
US | - | 0.9974 | Sporadic cancers | |
| 220_TYR | PHE |
VAR_045117
- |
US | - | 0.147 | A sporadic cancer | |
| 220_TYR | ASN |
VAR_045118
rs530941076 |
US | - | 0.9869 | Sporadic cancers | |
| 220_TYR | SER |
ClinVar chr17:7578190 rs121912666 |
Pathogenic | - | 0.9754 | Li-Fraumeni syndrome 1|Papillary renal cell carcinoma type 1|Ovarian serous cystadenocarcinoma|Breast neoplasm|Malignant neoplasm of body of uterus|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Neoplasm of the large intestine|Lung adenocarcinoma|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Transitional cell carcinoma of the bladder|Small cell lung carcinoma|Uterine carcinosarcoma|Papillary renal cell carcinoma, sporadic|Glioblastoma|Gastric adenocarcinoma|Li-Fraumeni syndrome|Neoplasm of brain|Neoplasm of ovary|Hereditary cancer-predisposing syndrome [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C0153574|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0006485,MedGen:C0280630|MeSH:C538614,MedGen:C1336078|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 220_TYR | CYS |
ClinVar chr17:7578190 rs121912666 |
Pathogenic | - | 0.8515 | Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Squamous cell lung carcinoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Lung adenocarcinoma|Transitional cell carcinoma of the bladder|Prostate adenocarcinoma|Uterine carcinosarcoma|Acute myeloid leukemia|Ovarian serous cystadenocarcinoma|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Breast neoplasm|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Neoplasm of brain|Small cell lung carcinoma|Glioblastoma|Papillary renal cell carcinoma, sporadic|Neoplasm of the large intestine|Neoplasm of ovary|Li-Fraumeni syndrome 1|Breast carcinoma|B-cell chronic lymphocytic leukemia|Gastric cancer|12 conditions|TP53-related condition|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|12 conditions||MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 220_TYR | HIS |
ClinVar chr17:7578191 rs530941076 |
Pathogenic/Likely pathogenic | - | 0.9633 | Breast neoplasm|Glioblastoma|Ovarian serous cystadenocarcinoma|Hepatocellular carcinoma|Prostate adenocarcinoma|Transitional cell carcinoma of the bladder|Malignant melanoma of skin|Neoplasm of brain|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Pancreatic adenocarcinoma|Papillary renal cell carcinoma type 1|Gastric adenocarcinoma|Malignant neoplasm of body of uterus|Papillary renal cell carcinoma, sporadic|Small cell lung carcinoma|Hereditary cancer-predisposing syndrome|Lung adenocarcinoma|Uterine carcinosarcoma|Neoplasm of ovary|Li-Fraumeni syndrome|Adrenocortical carcinoma, hereditary [Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MedGen:C0153574|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 220_TYR | TER |
ClinVar chr17:7578189 rs1567551150 |
Pathogenic | - | - | Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000] | |
| 221_GLU | ALA |
VAR_045119
- |
US | - | 0.6479 | Sporadic cancers | |
| 221_GLU | ASP |
VAR_045120
- |
US | - | 0.4842 | Sporadic cancers | |
| 221_GLU | GLY |
VAR_045121
- |
US | - | 0.7281 | Sporadic cancers | |
| 221_GLU | LYS |
VAR_045122
rs786201592 |
US | - | 0.7104 | Sporadic cancers | |
| 221_GLU | GLN |
VAR_045123
- |
US | - | 0.4052 | Sporadic cancers | |
| 221_GLU | TER |
ClinVar chr17:7578188 rs786201592 |
Pathogenic | - | - | Neoplasm of ovary|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 222_PRO | ALA |
VAR_045124
- |
US | - | 0.0808 | A sporadic cancer | |
| 222_PRO | LEU |
VAR_045125
rs146340390 |
US | - | 0.0964 | Sporadic cancers | |
| 222_PRO | GLN |
VAR_045126
- |
US | - | 0.1551 | Sporadic cancers | |
| 222_PRO | ARG |
VAR_045127
- |
US | - | 0.1863 | A sporadic cancer | |
| 222_PRO | SER |
VAR_045128
rs1060501203 |
US | - | 0.1373 | Sporadic cancers | |
| 222_PRO | THR |
VAR_045129
- |
US | - | 0.1178 | Sporadic cancers | |
| 223_PRO | HIS |
VAR_045130
rs138983188 |
US | - | 0.9636 | Sporadic cancers | |
| 223_PRO | LEU |
VAR_045131
rs138983188 |
US | - | 0.838 | Sporadic cancers | |
| 223_PRO | ARG |
VAR_045132
- |
US | - | 0.9182 | A sporadic cancer | |
| 223_PRO | SER |
VAR_045133
- |
US | - | 0.8509 | A sporadic cancer | |
| 223_PRO | THR |
VAR_045134
- |
US | - | 0.8645 | A sporadic cancer | |
| 223_PRO | ALA |
VAR_047179
- |
US | - | 0.495 | A sporadic cancer | |
| 224_GLU | ASP |
VAR_045135
rs267605076 |
US | - | 0.8106 | Sporadic cancers | |
| 224_GLU | GLY |
VAR_045136
- |
US | - | 0.8099 | Sporadic cancers | |
| 224_GLU | LYS |
VAR_045137
rs1555525707 |
US | - | 0.9057 | Sporadic cancers | |
| 224_GLU | VAL |
VAR_045138
- |
US | - | 0.82 | A sporadic cancer | |
| 224_GLU | GLU |
ClinVar chr17:7578177 rs267605076 |
Pathogenic/Likely pathogenic | - | - | Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 225_VAL | ALA |
VAR_045139
- |
US | - | 0.2646 | Sporadic cancers | |
| 225_VAL | ASP |
VAR_045140
- |
US | - | 0.6692 | A sporadic cancer | |
| 225_VAL | PHE |
VAR_045141
- |
US | - | 0.4754 | Sporadic cancers | |
| 225_VAL | GLY |
VAR_045142
- |
US | - | 0.4103 | A sporadic cancer | |
| 225_VAL | ILE |
VAR_045143
- |
US | - | 0.1204 | Sporadic cancers | |
| 225_VAL | LEU |
VAR_045144
rs746504075 |
US | - | 0.4183 | A sporadic cancer | |
| 225_VAL | LEU |
8.3kJPN chr17:7577608 rs746504075 |
- | 0.0001 | 0.4183 | - | |
| 226_GLY | ALA |
VAR_045145
- |
US | - | 0.7389 | Sporadic cancers | |
| 226_GLY | SER |
VAR_045146
- |
US | - | 0.6868 | Sporadic cancers | |
| 226_GLY | VAL |
VAR_045147
rs970212462 |
US | - | 0.9277 | Sporadic cancers | |
| 226_GLY | ASN |
VAR_045844
- |
US | - | 0.9234 | A sporadic cancer | |
| 226_GLY | ASP |
VAR_047180
- |
US | - | 0.8313 | Sporadic cancers | |
| 227_SER | CYS |
VAR_045148
- |
US | - | 0.1364 | Sporadic cancers | |
| 227_SER | PHE |
VAR_045149
- |
US | - | 0.548 | Sporadic cancers | |
| 227_SER | PRO |
VAR_045150
- |
US | - | 0.9492 | A sporadic cancer | |
| 227_SER | THR |
VAR_045151
- |
LP/P | - | 0.1425 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 228_ASP | GLU |
VAR_005960
- |
US | - | 0.1188 | Sporadic cancers | |
| 228_ASP | ALA |
VAR_045152
- |
US | - | 0.1645 | Sporadic cancers | |
| 228_ASP | GLY |
VAR_045153
- |
US | - | 0.1774 | Sporadic cancers | |
| 228_ASP | HIS |
VAR_045154
- |
US | - | 0.2979 | Sporadic cancers | |
| 228_ASP | ASN |
VAR_045155
- |
US | - | 0.1058 | Sporadic cancers | |
| 228_ASP | VAL |
VAR_045156
- |
US | - | 0.238 | Sporadic cancers | |
| 228_ASP | TYR |
VAR_045157
- |
US | - | 0.3148 | Sporadic cancers | |
| 228_ASP | PRO |
VAR_045845
- |
US | - | 0.521 | A sporadic cancer | |
| 229_CYS | GLY |
VAR_045158
- |
US | - | 0.2485 | A sporadic cancer | |
| 229_CYS | ARG |
VAR_045159
rs1064794312 |
US | - | 0.5548 | Sporadic cancers | |
| 229_CYS | SER |
VAR_045160
- |
US | - | 0.2846 | Sporadic cancers | |
| 229_CYS | TYR |
VAR_045161
rs1064793603 |
US | - | 0.1447 | Sporadic cancers | |
| 229_CYS | ASN |
VAR_045846
- |
US | - | 0.5546 | A sporadic cancer | |
| 230_THR | ILE |
VAR_005961
- |
US | - | 0.669 | Sporadic cancers | |
| 230_THR | ALA |
VAR_045162
- |
US | - | 0.1821 | Sporadic cancers | |
| 230_THR | ASN |
VAR_045163
- |
US | - | 0.6742 | Sporadic cancers | |
| 230_THR | PRO |
VAR_045164
- |
US | - | 0.8389 | Sporadic cancers | |
| 230_THR | SER |
VAR_045165
- |
US | - | 0.2275 | Sporadic cancers | |
| 231_THR | ALA |
VAR_045166
- |
US | - | 0.4094 | Sporadic cancers | |
| 231_THR | ILE |
VAR_045167
rs1555525564 |
US | - | 0.629 | Sporadic cancers | |
| 231_THR | ASN |
VAR_045168
- |
US | - | 0.7626 | Sporadic cancers | |
| 231_THR | SER |
VAR_045169
- |
US | - | 0.5804 | Sporadic cancers | |
| 231_THR | ALA |
8.3kJPN chr17:7577590 - |
- | 0.0001 | 0.4094 | - | |
| 232_ILE | THR |
VAR_005962
rs587781589 |
US | - | 0.9462 | Sporadic cancers | |
| 232_ILE | PHE |
VAR_045170
- |
US | - | 0.7616 | Sporadic cancers | |
| 232_ILE | LEU |
VAR_045171
rs1555525562 |
US | - | 0.396 | Sporadic cancers | |
| 232_ILE | ASN |
VAR_045172
- |
US | - | 0.9876 | Sporadic cancers | |
| 232_ILE | SER |
VAR_045173
- |
US | - | 0.9826 | Sporadic cancers | |
| 232_ILE | VAL |
VAR_045174
- |
US | - | 0.1023 | Sporadic cancers | |
| 232_ILE | THR |
ClinVar chr17:7577586 rs587781589 |
Pathogenic/Likely pathogenic | - | 0.9462 | Hereditary cancer-predisposing syndrome|not specified|not provided [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900] | |
| 232_ILE | SER |
ClinVar chr17:7577586 rs587781589 |
Pathogenic | - | 0.9826 | Neoplasm of ovary|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 232_ILE | ASN |
ClinVar chr17:7577586 rs587781589 |
Pathogenic/Likely pathogenic | - | 0.9876 | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 233_HIS | ASP |
VAR_045175
- |
LP/P | - | 0.9787 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 233_HIS | LEU |
VAR_045176
- |
US | - | 0.3678 | Sporadic cancers | |
| 233_HIS | PRO |
VAR_045177
- |
US | - | 0.8782 | A sporadic cancer | |
| 233_HIS | GLN |
VAR_045178
- |
US | - | 0.9481 | Sporadic cancers | |
| 233_HIS | TYR |
VAR_045179
- |
US | - | 0.4592 | Sporadic cancers | |
| 233_HIS | ARG |
VAR_047181
rs879254233 |
US | - | 0.9072 | Sporadic cancers | |
| 234_TYR | CYS |
VAR_005963
rs587780073 |
LP/P | - | 0.8 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 234_TYR | HIS |
VAR_005964
rs864622237 |
US | - | 0.9891 | Sporadic cancers | |
| 234_TYR | ASP |
VAR_045180
rs864622237 |
US | - | 0.9975 | Sporadic cancers | |
| 234_TYR | PHE |
VAR_045181
- |
US | - | 0.0991 | A sporadic cancer | |
| 234_TYR | ASN |
VAR_045182
rs864622237 |
US | - | 0.9909 | Sporadic cancers | |
| 234_TYR | SER |
VAR_045183
rs587780073 |
US | - | 0.9852 | Sporadic cancers | |
| 234_TYR | LYS |
VAR_045847
- |
US | - | 0.9989 | A sporadic cancer | |
| 234_TYR | GLN |
VAR_045848
- |
US | - | 0.9986 | A sporadic cancer | |
| 234_TYR | CYS |
ClinVar chr17:7577580 rs587780073 |
Pathogenic/Likely pathogenic | - | 0.8 | not provided|Li-Fraumeni syndrome|Neoplasm of the large intestine|Transitional cell carcinoma of the bladder|Prostate adenocarcinoma|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Glioblastoma|Squamous cell lung carcinoma|Hepatocellular carcinoma|Gastric adenocarcinoma|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Hereditary cancer-predisposing syndrome|Breast neoplasm|Carcinoma of esophagus|Adrenal cortex carcinoma|Neoplasm of ovary|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 234_TYR | ASP |
ClinVar chr17:7577581 rs864622237 |
Pathogenic | - | 0.9975 | Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Adrenal cortex carcinoma|Breast neoplasm|Transitional cell carcinoma of the bladder|Prostate adenocarcinoma|Hereditary cancer-predisposing syndrome|Pancreatic adenocarcinoma|Gastric adenocarcinoma|Neoplasm of the large intestine|Hepatocellular carcinoma|Squamous cell lung carcinoma|Small cell lung carcinoma|Glioblastoma|Ovarian serous cystadenocarcinoma [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006046,MedGen:C0279663] | |
| 234_TYR | HIS |
ClinVar chr17:7577581 rs864622237 |
Pathogenic | - | 0.9891 | Gastric adenocarcinoma|Small cell lung carcinoma|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Adrenal cortex carcinoma|Carcinoma of esophagus|Glioblastoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Pancreatic adenocarcinoma|Breast neoplasm|Squamous cell lung carcinoma|Neoplasm of the large intestine|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 234_TYR | ASN |
ClinVar chr17:7577581 rs864622237 |
Pathogenic | - | 0.9909 | Adrenal cortex carcinoma|Breast neoplasm|Transitional cell carcinoma of the bladder|Prostate adenocarcinoma|Squamous cell lung carcinoma|Pancreatic adenocarcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Glioblastoma|Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Neoplasm of the large intestine|Small cell lung carcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 234_TYR | TER |
ClinVar chr17:7577579 rs2151021924 |
Pathogenic | - | - | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 234_TYR | TER |
ClinVar chr17:7577579 - |
Pathogenic | - | - | TP53-related condition|Li-Fraumeni syndrome [|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 235_ASN | HIS |
VAR_045184
- |
US | - | 0.3915 | A sporadic cancer | |
| 235_ASN | ILE |
VAR_045185
rs144340710 |
US | - | 0.8491 | Sporadic cancers | |
| 235_ASN | SER |
VAR_045186
rs144340710 |
LP/P | - | 0.1402 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 235_ASN | THR |
VAR_045187
- |
US | - | 0.5234 | Sporadic cancers | |
| 235_ASN | TYR |
VAR_045188
rs786204145 |
US | - | 0.7572 | Sporadic cancers | |
| 235_ASN | MET |
VAR_045849
- |
US | - | 0.8714 | A sporadic cancer | |
| 235_ASN | ASP |
VAR_047182
- |
US | - | 0.8126 | An adrenocortical carcinoma with no family history | |
| 235_ASN | SER |
gnomAD chr17:7577577 rs144340710 |
- | 0.000178938 | 0.1402 | - | |
| 236_TYR | CYS |
VAR_045189
rs730882026 |
LP/P | - | 0.9599 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 236_TYR | ASP |
VAR_045190
rs587782289 |
US | - | 0.9936 | Sporadic cancers | |
| 236_TYR | PHE |
VAR_045191
- |
US | - | 0.0654 | A sporadic cancer | |
| 236_TYR | HIS |
VAR_045192
rs587782289 |
US | - | 0.982 | Sporadic cancers | |
| 236_TYR | ASN |
VAR_045193
rs587782289 |
US | - | 0.9869 | Sporadic cancers | |
| 236_TYR | SER |
VAR_045194
rs730882026 |
US | - | 0.9891 | Sporadic cancers | |
| 236_TYR | HIS |
ClinVar chr17:7577575 rs587782289 |
Pathogenic | - | 0.982 | Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 236_TYR | TER |
ClinVar chr17:7577573 rs1597365202 |
Pathogenic | - | - | Familial cancer of breast|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 236_TYR | TER |
ClinVar chr17:7577573 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 237_MET | ILE |
VAR_005965
rs587782664 |
LP/P | - | 0.9957 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 237_MET | LYS |
VAR_045195
rs765848205 |
US | - | 0.9612 | Sporadic cancers | |
| 237_MET | LEU |
VAR_045196
- |
US | - | 0.8667 | Sporadic cancers | |
| 237_MET | ARG |
VAR_045197
rs765848205 |
US | - | 0.9494 | Sporadic cancers | |
| 237_MET | THR |
VAR_045198
- |
US | - | 0.9638 | Sporadic cancers | |
| 237_MET | VAL |
VAR_045199
rs730882004 |
US | - | 0.8096 | Sporadic cancers | |
| 237_MET | ILE |
ClinVar chr17:7577570 rs587782664 |
Pathogenic | - | 0.9957 | Hereditary cancer-predisposing syndrome|Ovarian serous cystadenocarcinoma|Malignant neoplasm of body of uterus|Gastric adenocarcinoma|Breast neoplasm|Pancreatic adenocarcinoma|Lung adenocarcinoma|Neoplasm of the large intestine|Carcinoma of esophagus|Neoplasm of ovary|Neoplasm of brain|Brainstem glioma|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Li-Fraumeni syndrome|Breast and/or ovarian cancer|not specified|Li-Fraumeni syndrome 1|not provided|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0006046,MedGen:C0279663|MedGen:C0153574|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN221562|MedGen:CN169374|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 237_MET | LYS |
ClinVar chr17:7577571 rs765848205 |
Pathogenic | - | 0.9612 | Malignant neoplasm of body of uterus|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of brain|Brainstem glioma|Lung adenocarcinoma|Breast neoplasm|Neoplasm of the large intestine|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|Li-Fraumeni syndrome|Acute myeloid leukemia [MedGen:C0153574|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519] | |
| 237_MET | ILE |
ClinVar chr17:7577570 rs587782664 |
Pathogenic/Likely pathogenic | - | 0.9957 | Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary|Malignant tumor of urinary bladder|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 237_MET | ILE |
ClinVar chr17:7577570 - |
Pathogenic | - | 0.9957 | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 238_CYS | PHE |
VAR_005966
rs730882005 |
US | - | 0.9996 | Sporadic cancers | |
| 238_CYS | TYR |
VAR_005967
rs730882005 |
US | - | 0.9996 | A familial cancer not matching LFS | |
| 238_CYS | GLY |
VAR_045200
rs1057519981 |
LP/P | - | 0.9956 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 238_CYS | ARG |
VAR_045201
rs1057519981 |
US | - | 0.9997 | Sporadic cancers | |
| 238_CYS | SER |
VAR_045202
rs730882005 |
LP/P | - | 0.9996 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 238_CYS | TRP |
VAR_045203
rs193920789 |
US | - | 0.9996 | Sporadic cancers | |
| 238_CYS | HIS |
VAR_045850
- |
US | - | 0.9997 | A sporadic cancer | |
| 238_CYS | TRP |
ClinVar chr17:7577567 rs193920789 |
Pathogenic/Likely pathogenic | - | 0.9996 | Malignant tumor of prostate|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,Orphanet:1331|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 238_CYS | TYR |
ClinVar chr17:7577568 rs730882005 |
Pathogenic/Likely pathogenic | - | 0.9996 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Gastric adenocarcinoma|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Breast neoplasm|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Multiple myeloma|Ovarian serous cystadenocarcinoma|Neoplasm of uterine cervix|not provided|Hepatocellular carcinoma|Lung adenocarcinoma|Neoplasm of brain|B-cell chronic lymphocytic leukemia|Glioblastoma|Uterine carcinosarcoma|Pancreatic adenocarcinoma|Neoplasm of ovary|Li-Fraumeni syndrome 1|Gallbladder cancer|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|MedGen:C3661900|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0005411,MedGen:C0153452|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 238_CYS | PHE |
ClinVar chr17:7577568 rs730882005 |
Pathogenic/Likely pathogenic | - | 0.9996 | Breast neoplasm|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Multiple myeloma|Lung adenocarcinoma|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Uterine carcinosarcoma|Hepatocellular carcinoma|Neoplasm of uterine cervix|Ovarian serous cystadenocarcinoma|B-cell chronic lymphocytic leukemia|Neoplasm of the large intestine|Glioblastoma|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C0153574|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 238_CYS | SER |
ClinVar chr17:7577568 rs730882005 |
Pathogenic/Likely pathogenic | - | 0.9996 | Neoplasm of brain|Squamous cell carcinoma of the head and neck|Malignant neoplasm of body of uterus|Gastric adenocarcinoma|B-cell chronic lymphocytic leukemia|Transitional cell carcinoma of the bladder|Glioblastoma|Uterine carcinosarcoma|Neoplasm of the large intestine|Breast neoplasm|Carcinoma of esophagus|Hepatocellular carcinoma|Neoplasm of uterine cervix|Ovarian serous cystadenocarcinoma|Multiple myeloma|Lung adenocarcinoma|Pancreatic adenocarcinoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not provided|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C0153574|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 238_CYS | ARG |
ClinVar chr17:7577569 rs1057519981 |
Pathogenic | - | 0.9997 | Glioblastoma|Neoplasm of uterine cervix|B-cell chronic lymphocytic leukemia|Multiple myeloma|Pancreatic adenocarcinoma|Gastric adenocarcinoma|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Uterine carcinosarcoma|Neoplasm of the large intestine|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Breast neoplasm|Hereditary cancer-predisposing syndrome|Lung adenocarcinoma|Transitional cell carcinoma of the bladder|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:C0153574|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 238_CYS | GLY |
ClinVar chr17:7577569 rs1057519981 |
Pathogenic | - | 0.9956 | Lung adenocarcinoma|Uterine carcinosarcoma|Carcinoma of esophagus|Neoplasm of uterine cervix|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Pancreatic adenocarcinoma|B-cell chronic lymphocytic leukemia|Malignant neoplasm of body of uterus|Breast neoplasm|Multiple myeloma|Squamous cell carcinoma of the head and neck|Glioblastoma|Gastric adenocarcinoma|Neoplasm of brain|Hepatocellular carcinoma|Neoplasm of ovary|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MedGen:C0153574|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 238_CYS | TYR |
8.3kJPN chr17:7577568 rs730882005 |
- | 0.0001 | 0.9996 | - | |
| 239_ASN | ASP |
VAR_045204
rs876660807 |
US | - | 0.9944 | Sporadic cancers | |
| 239_ASN | HIS |
VAR_045205
- |
US | - | 0.8636 | A sporadic cancer | |
| 239_ASN | ILE |
VAR_045206
- |
US | - | 0.9897 | A sporadic cancer | |
| 239_ASN | LYS |
VAR_045207
rs1057522275 |
US | - | 0.9959 | Sporadic cancers | |
| 239_ASN | SER |
VAR_045208
rs1057519999 |
US | - | 0.7939 | Sporadic cancers | |
| 239_ASN | THR |
VAR_045209
rs1057519999 |
US | - | 0.9759 | Sporadic cancers | |
| 239_ASN | TYR |
VAR_045210
- |
US | - | 0.8137 | Sporadic cancers | |
| 239_ASN | SER |
ClinVar chr17:7577565 rs1057519999 |
Likely pathogenic | - | 0.7939 | Neoplasm of the large intestine|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Breast neoplasm|Lung adenocarcinoma|Gastric adenocarcinoma|Hepatocellular carcinoma|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Uterine carcinosarcoma|Prostate adenocarcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|not provided [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900] | |
| 240_SER | ILE |
VAR_005968
- |
US | - | 0.9894 | Sporadic cancers | |
| 240_SER | CYS |
VAR_045211
- |
US | - | 0.965 | Sporadic cancers | |
| 240_SER | GLY |
VAR_045212
- |
US | - | 0.8955 | Sporadic cancers | |
| 240_SER | ASN |
VAR_045213
- |
US | - | 0.9618 | Sporadic cancers | |
| 240_SER | PRO |
VAR_045214
- |
US | - | 0.9978 | A sporadic cancer | |
| 240_SER | ARG |
VAR_045215
- |
US | - | 0.9995 | Sporadic cancers | |
| 240_SER | THR |
VAR_045216
- |
US | - | 0.8618 | Sporadic cancers | |
| 240_SER | GLY |
ClinVar chr17:7577563 rs1567549584 |
Pathogenic/Likely pathogenic | - | 0.8955 | Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 240_SER | ARG |
ClinVar chr17:7577563 rs1567549584 |
Likely pathogenic | - | 0.9995 | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 240_SER | ASN |
ClinVar chr17:7577562 - |
Pathogenic | - | 0.9618 | Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519] | |
| 241_SER | PHE |
VAR_005969
rs28934573 |
LP/P | - | 0.999 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 241_SER | ALA |
VAR_033036
rs1057520002 |
US | - | 0.9765 | Sporadic cancers | |
| 241_SER | CYS |
VAR_045217
rs28934573 |
US | - | 0.998 | Sporadic cancers | |
| 241_SER | PRO |
VAR_045218
rs1057520002 |
US | - | 0.9981 | Sporadic cancers | |
| 241_SER | TYR |
VAR_045219
rs28934573 |
US | - | 0.9984 | Sporadic cancers | |
| 241_SER | THR |
VAR_047183
- |
LP/P | - | 0.9465 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 241_SER | PHE |
ClinVar chr17:7577559 rs28934573 |
Pathogenic/Likely pathogenic | - | 0.999 | Bone osteosarcoma|Hepatoblastoma|Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the skin|Carcinoma of esophagus|Breast neoplasm|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Malignant melanoma of skin|Glioblastoma|Transitional cell carcinoma of the bladder|Non-Hodgkin lymphoma|Malignant neoplasm of body of uterus|Brainstem glioma|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Papillary renal cell carcinoma type 1|Uterine carcinosarcoma|Papillary renal cell carcinoma, sporadic|Neoplasm of brain|Gallbladder carcinoma|Li-Fraumeni syndrome|Neoplasm of ovary|Lip and oral cavity carcinoma|Li-Fraumeni syndrome 1|12 conditions|not provided [MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500,Orphanet:668|Human Phenotype Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MedGen:C0153574|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0006485,MedGen:C0280630|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0003220,MedGen:C0235782|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0023644,MedGen:C0220641|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions|MedGen:C3661900] | |
| 241_SER | CYS |
ClinVar chr17:7577559 rs28934573 |
Pathogenic/Likely pathogenic | - | 0.998 | Li-Fraumeni syndrome|not provided|Glioblastoma|Papillary renal cell carcinoma type 1|Neoplasm of brain|Neoplasm of the large intestine|Lung adenocarcinoma|Non-Hodgkin lymphoma|Papillary renal cell carcinoma, sporadic|Breast neoplasm|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Squamous cell carcinoma of the skin|Gallbladder carcinoma|Uterine carcinosarcoma|Pancreatic adenocarcinoma|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Brainstem glioma|Malignant neoplasm of body of uterus|Carcinoma of esophagus|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0003220,MedGen:C0235782|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MedGen:C0153574|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 241_SER | TYR |
ClinVar chr17:7577559 rs28934573 |
Pathogenic | - | 0.9984 | Carcinoma of esophagus|Glioblastoma|Uterine carcinosarcoma|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Neoplasm of brain|Non-Hodgkin lymphoma|Lung adenocarcinoma|Breast neoplasm|Ovarian serous cystadenocarcinoma|Papillary renal cell carcinoma, sporadic|Neoplasm of the large intestine|Brainstem glioma|Gallbladder carcinoma|Transitional cell carcinoma of the bladder|Papillary renal cell carcinoma type 1|Neoplasm of ovary|Li-Fraumeni syndrome|not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006485,MedGen:C0280630|MedGen:C0153574|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0003220,MedGen:C0235782|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 241_SER | ALA |
ClinVar chr17:7577560 rs1057520002 |
Pathogenic | - | 0.9765 | Uterine carcinosarcoma|Carcinoma of esophagus|Neoplasm of the large intestine|Brainstem glioma|Neoplasm of brain|Gallbladder carcinoma|Malignant melanoma of skin|Non-Hodgkin lymphoma|Malignant neoplasm of body of uterus|Papillary renal cell carcinoma type 1|Ovarian serous cystadenocarcinoma|Breast neoplasm|Glioblastoma|Lung adenocarcinoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Papillary renal cell carcinoma, sporadic|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0003220,MedGen:C0235782|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MedGen:C0153574|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MeSH:C538614,MedGen:C1336078|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 241_SER | THR |
ClinVar chr17:7577560 rs1057520002 |
Pathogenic | - | 0.9465 | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 242_CYS | PHE |
VAR_005970
rs121912655 |
US | - | 0.9994 | Sporadic cancers | |
| 242_CYS | GLY |
VAR_045220
rs1057519982 |
US | - | 0.9973 | Sporadic cancers | |
| 242_CYS | ARG |
VAR_045221
- |
US | - | 0.9994 | Sporadic cancers | |
| 242_CYS | SER |
VAR_045222
rs121912655 |
US | - | 0.9989 | Sporadic cancers | |
| 242_CYS | TRP |
VAR_045223
rs375874539 |
US | - | 0.9994 | Sporadic cancers | |
| 242_CYS | TYR |
VAR_045224
rs121912655 |
US | - | 0.9995 | A familial cancer not matching LFS | |
| 242_CYS | TYR |
ClinVar chr17:7577556 rs121912655 |
Pathogenic | - | 0.9995 | Li-fraumeni-like syndrome|Hereditary cancer-predisposing syndrome|Lung adenocarcinoma|Gastric adenocarcinoma|Li-Fraumeni syndrome|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Squamous cell lung carcinoma|B-cell chronic lymphocytic leukemia|Glioblastoma|Uterine carcinosarcoma|Breast neoplasm|Carcinoma of esophagus|Neoplasm of ovary|Li-Fraumeni syndrome 1|Familial cancer of breast|not provided [MONDO:MONDO:0800290,MedGen:C2675080|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900] | |
| 242_CYS | TRP |
ClinVar chr17:7577555 rs375874539 |
Pathogenic | - | 0.9994 | Squamous cell carcinoma of the head and neck|Glioblastoma|Hepatocellular carcinoma|Lung adenocarcinoma|Squamous cell lung carcinoma|Uterine carcinosarcoma|B-cell chronic lymphocytic leukemia|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Breast neoplasm|Li-Fraumeni syndrome [MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 242_CYS | TER |
ClinVar chr17:7577555 rs375874539 |
Pathogenic | - | - | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 243_MET | ILE |
VAR_045225
- |
US | - | 0.9829 | Sporadic cancers | |
| 243_MET | LYS |
VAR_045226
- |
US | - | 0.9506 | Sporadic cancers | |
| 243_MET | LEU |
VAR_045227
rs786203117 |
US | - | 0.6754 | Sporadic cancers | |
| 243_MET | ARG |
VAR_045228
- |
US | - | 0.9493 | Sporadic cancers | |
| 243_MET | THR |
VAR_045229
rs730882006 |
US | - | 0.9711 | Sporadic cancers | |
| 243_MET | VAL |
VAR_045230
rs786203117 |
US | - | 0.6734 | Sporadic cancers | |
| 244_GLY | CYS |
VAR_045231
rs1057519989 |
US | - | 0.9978 | Sporadic cancers | |
| 244_GLY | ASP |
VAR_045232
rs1057517983 |
LP/P | - | 0.9987 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 244_GLY | GLU |
VAR_045233
- |
US | - | 0.9993 | A sporadic cancer | |
| 244_GLY | ARG |
VAR_045234
rs1057519989 |
US | - | 0.999 | Sporadic cancers | |
| 244_GLY | SER |
VAR_045235
rs1057519989 |
US | - | 0.9907 | Sporadic cancers | |
| 244_GLY | VAL |
VAR_045236
rs985033810 |
LP/P | - | 0.9973 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 244_GLY | ALA |
VAR_047186
rs985033810 |
US | - | 0.9878 | Sporadic cancers | |
| 244_GLY | ASP |
ClinVar chr17:7577550 rs985033810 |
Pathogenic/Likely pathogenic | - | 0.9987 | not provided|Neoplasm of the large intestine|Squamous cell lung carcinoma|Glioblastoma|Small cell lung carcinoma|Carcinoma of esophagus|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Uterine carcinosarcoma|Lung adenocarcinoma|Gastric adenocarcinoma|Malignant neoplasm of body of uterus|Hepatocellular carcinoma|Neoplasm of brain|Li-Fraumeni syndrome|Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Gastric cancer [MedGen:C3661900|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MedGen:C0153574|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659] | |
| 244_GLY | SER |
ClinVar chr17:7577551 rs1057519989 |
Pathogenic | - | 0.9907 | Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Small cell lung carcinoma|Neoplasm of brain|Uterine carcinosarcoma|Carcinoma of esophagus|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Glioblastoma|Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Neoplasm of the large intestine|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Rhabdomyosarcoma|Li-Fraumeni syndrome 1|Gastric cancer|Malignant tumor of urinary bladder|Adrenocortical carcinoma, hereditary [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C0153574|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 244_GLY | VAL |
ClinVar chr17:7577550 rs985033810 |
Likely pathogenic | - | 0.9973 | Neoplasm of brain|Hepatocellular carcinoma|Squamous cell lung carcinoma|Glioblastoma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Gastric adenocarcinoma|Small cell lung carcinoma|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|Uterine carcinosarcoma|Carcinoma of esophagus|Neoplasm of ovary [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MedGen:C0153574|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000] | |
| 244_GLY | ARG |
ClinVar chr17:7577551 rs1057519989 |
Likely pathogenic | - | 0.999 | Gastric adenocarcinoma|Glioblastoma|Neoplasm of brain|Neoplasm of the large intestine|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Carcinoma of esophagus|Squamous cell carcinoma of the head and neck|Malignant neoplasm of body of uterus|Uterine carcinosarcoma|Squamous cell lung carcinoma|Hepatocellular carcinoma|Small cell lung carcinoma [Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C0153574|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573] | |
| 244_GLY | ALA |
ClinVar chr17:7577550 rs985033810 |
Pathogenic | - | 0.9878 | Li-Fraumeni syndrome|Lip and oral cavity carcinoma|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0023644,MedGen:C0220641|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 245_GLY | ALA |
VAR_005971
rs121912656 |
US | - | 0.9856 | Sporadic cancers | |
| 245_GLY | CYS |
VAR_005972
rs28934575 |
LP/P | - | 0.9965 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 245_GLY | ASP |
VAR_005973
rs121912656 |
LP/P | - | 0.9989 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 245_GLY | SER |
VAR_005974
rs28934575 |
LP/P | - | 0.9732 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 245_GLY | VAL |
VAR_005975
rs121912656 |
LP/P | - | 0.9969 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 245_GLY | GLU |
VAR_045237
- |
US | - | 0.9993 | A sporadic cancer | |
| 245_GLY | ARG |
VAR_045238
rs28934575 |
US | - | 0.9987 | Sporadic cancers | |
| 245_GLY | PHE |
VAR_045851
- |
US | - | 0.9987 | Sporadic cancers | |
| 245_GLY | HIS |
VAR_045852
- |
US | - | 0.9997 | A sporadic cancer | |
| 245_GLY | LEU |
VAR_045853
- |
US | - | 0.9988 | Sporadic cancers | |
| 245_GLY | ASN |
VAR_045854
- |
US | - | 0.9988 | Sporadic cancers | |
| 245_GLY | CYS |
ClinVar chr17:7577548 rs28934575 |
Pathogenic | - | 0.9965 | Li-Fraumeni syndrome 1|not provided|Breast neoplasm|Glioblastoma|Brainstem glioma|Pancreatic adenocarcinoma|Uterine carcinosarcoma|Lung adenocarcinoma|Neoplasm of brain|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Ovarian serous cystadenocarcinoma|Prostate adenocarcinoma|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Hepatocellular carcinoma|Squamous cell lung carcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Breast and/or ovarian cancer [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN221562] | |
| 245_GLY | ASP |
ClinVar chr17:7577547 rs121912656 |
Pathogenic/Likely pathogenic | - | 0.9989 | Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Pancreatic adenocarcinoma|Prostate adenocarcinoma|Ovarian serous cystadenocarcinoma|Breast neoplasm|Glioblastoma|Brainstem glioma|Neoplasm of brain|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Neoplasm of the large intestine|Lung adenocarcinoma|Gastric adenocarcinoma|Uterine carcinosarcoma|Hepatocellular carcinoma|Transitional cell carcinoma of the bladder|Carcinoma of esophagus|Neoplasm of ovary|not provided|Adrenocortical carcinoma, hereditary [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MedGen:C3661900|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 245_GLY | SER |
ClinVar chr17:7577548 rs28934575 |
Pathogenic | - | 0.9732 | Li-fraumeni-like syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Adenocarcinoma|not provided|Li-Fraumeni syndrome|Squamous cell lung carcinoma|Prostate adenocarcinoma|Lung adenocarcinoma|Neoplasm of brain|Squamous cell carcinoma of the head and neck|Glioblastoma|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Uterine carcinosarcoma|Transitional cell carcinoma of the bladder|Neoplasm|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|Breast neoplasm|Brainstem glioma|Hepatocellular carcinoma|Neoplasm of the large intestine|Astrocytoma, anaplastic|Atypical teratoid rhabdoid tumor|Neoplasm of ovary|Colorectal cancer|Familial ovarian cancer|Breast carcinoma|12 conditions|Gastric cancer|Malignant tumor of urinary bladder|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0800290,MedGen:C2675080|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0004970,MedGen:C0001418|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0016684,MedGen:C0334579,Orphanet:251589|Human Phenotype Ontology:HP:0034401,MONDO:MONDO:0020560,MedGen:C1266184,Orphanet:99966|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0016248,MedGen:C5679802,Orphanet:213517|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|12 conditions|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 245_GLY | VAL |
ClinVar chr17:7577547 rs121912656 |
Pathogenic | - | 0.9969 | Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Glioblastoma|Pancreatic adenocarcinoma|Uterine carcinosarcoma|Hepatocellular carcinoma|Carcinoma of esophagus|Prostate adenocarcinoma|Lung adenocarcinoma|Breast neoplasm|Squamous cell lung carcinoma|Brainstem glioma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome 1|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 246_MET | ARG |
VAR_005976
rs587780074 |
US | - | 0.9949 | Sporadic cancers | |
| 246_MET | THR |
VAR_005977
rs587780074 |
US | - | 0.9983 | Sporadic cancers | |
| 246_MET | VAL |
VAR_005978
rs483352695 |
LP/P | - | 0.9304 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 246_MET | LEU |
VAR_044020
rs483352695 |
US | - | 0.8684 | Sporadic cancers | |
| 246_MET | ILE |
VAR_045239
rs1019340046 |
US | - | 0.9793 | Sporadic cancers | |
| 246_MET | LYS |
VAR_045240
- |
US | - | 0.9922 | Sporadic cancers | |
| 246_MET | VAL |
ClinVar chr17:7577545 rs483352695 |
Pathogenic | - | 0.9304 | not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 246_MET | LYS |
ClinVar chr17:7577544 rs587780074 |
Likely pathogenic | - | 0.9922 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 246_MET | ILE |
ClinVar chr17:7577543 rs1019340046 |
Pathogenic/Likely pathogenic | - | 0.9793 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Hereditary breast ovarian cancer syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145] | |
| 246_MET | ILE |
ClinVar chr17:7577543 - |
Likely pathogenic | - | 0.9793 | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 247_ASN | ILE |
VAR_005980
rs786201762 |
US | - | 0.9966 | Sporadic cancers | |
| 247_ASN | ASP |
VAR_045241
rs1452189221 |
US | - | 0.9854 | Sporadic cancers | |
| 247_ASN | LYS |
VAR_045242
- |
US | - | 0.9975 | Sporadic cancers | |
| 247_ASN | SER |
VAR_045243
rs786201762 |
US | - | 0.7867 | Sporadic cancers | |
| 247_ASN | TYR |
VAR_045244
- |
US | - | 0.9639 | Sporadic cancers | |
| 247_ASN | PHE |
VAR_045855
- |
US | - | 0.9967 | A sporadic cancer | |
| 247_ASN | THR |
VAR_047189
- |
US | - | 0.9894 | Sporadic cancers | |
| 248_ARG | GLY |
VAR_005981
rs121912651 |
US | - | 0.9985 | Sporadic cancers | |
| 248_ARG | LEU |
VAR_005982
rs11540652 |
US | - | 0.999 | Sporadic cancers | |
| 248_ARG | GLN |
VAR_005983
rs11540652 |
LP/P | - | 0.9963 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 248_ARG | TRP |
VAR_005984
rs121912651 |
LP/P | - | 0.9968 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 248_ARG | CYS |
VAR_045245
- |
US | - | 0.9978 | A sporadic cancer | |
| 248_ARG | PRO |
VAR_045246
rs11540652 |
US | - | 0.9994 | Sporadic cancers | |
| 248_ARG | TRP |
ClinVar chr17:7577539 rs121912651 |
Pathogenic | - | 0.9968 | Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Acute myeloid leukemia|Small cell lung carcinoma|Lung adenocarcinoma|Glioblastoma|Squamous cell carcinoma of the head and neck|B-cell chronic lymphocytic leukemia|Prostate adenocarcinoma|Breast neoplasm|Carcinoma of esophagus|Multiple myeloma|Uterine carcinosarcoma|Gastric adenocarcinoma|Neoplasm of brain|Hepatocellular carcinoma|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the skin|Brainstem glioma|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Myelodysplastic syndrome|Medulloblastoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Neoplasm|7 conditions|Neoplasm of ovary|Choroid plexus carcinoma|Gallbladder cancer|Lip and oral cavity carcinoma|Congenital fibrosarcoma|Gastric cancer|Breast and/or ovarian cancer|Malignant lymphoma, large B-cell, diffuse|Adrenocortical carcinoma, hereditary [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:C0153574|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|7 conditions|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0030392,MONDO:MONDO:0016718,MedGen:C0431109,Orphanet:251899|MONDO:MONDO:0005411,MedGen:C0153452|MONDO:MONDO:0023644,MedGen:C0220641|MONDO:MONDO:0004557,MedGen:C0334459|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MedGen:CN221562|MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 248_ARG | GLN |
ClinVar chr17:7577538 rs11540652 |
Pathogenic | - | 0.9963 | Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Sarcoma|Li-Fraumeni syndrome|not provided|Acute myeloid leukemia|Breast neoplasm|Small cell lung carcinoma|Neoplasm|Neoplasm of the large intestine|Multiple myeloma|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Brainstem glioma|Medulloblastoma|Malignant neoplasm of body of uterus|Uterine carcinosarcoma|Neoplasm of brain|Prostate adenocarcinoma|Gastric adenocarcinoma|Myelodysplastic syndrome|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|B-cell chronic lymphocytic leukemia|Carcinoma of esophagus|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Glioblastoma|Lung adenocarcinoma|11 conditions|Neoplasm of ovary|Lymphoma|Familial cancer of breast|Breast carcinoma|Lip and oral cavity carcinoma|Rhabdomyosarcoma|Ductal carcinoma in situ|Colorectal cancer|Gastric cancer|Malignant tumor of urinary bladder|Adrenocortical carcinoma, hereditary [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100242,MONDO:MONDO:0005089,MedGen:C1261473|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MedGen:C0153574|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|11 conditions|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0023644,MedGen:C0220641|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Human Phenotype Ontology:HP:0030075,MONDO:MONDO:0005023,MedGen:C0007124|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 248_ARG | LEU |
ClinVar chr17:7577538 rs11540652 |
Pathogenic | - | 0.999 | Hereditary cancer-predisposing syndrome|Brainstem glioma|Pancreatic adenocarcinoma|B-cell chronic lymphocytic leukemia|Uterine carcinosarcoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Hepatocellular carcinoma|Medulloblastoma|Myelodysplastic syndrome|Glioblastoma|Gastric adenocarcinoma|Squamous cell carcinoma of the skin|Breast neoplasm|Prostate adenocarcinoma|Neoplasm of brain|Squamous cell lung carcinoma|Acute myeloid leukemia|Multiple myeloma|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Small cell lung carcinoma|Carcinoma of esophagus|Neoplasm of the large intestine|Malignant melanoma of skin|Malignant neoplasm of body of uterus|Li-Fraumeni syndrome|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MedGen:C0153574|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 248_ARG | PRO |
ClinVar chr17:7577538 rs11540652 |
Pathogenic/Likely pathogenic | - | 0.9994 | Li-Fraumeni syndrome|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Uterine carcinosarcoma|Glioblastoma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Gastric adenocarcinoma|Medulloblastoma|Myelodysplastic syndrome|Prostate adenocarcinoma|B-cell chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Brainstem glioma|Breast neoplasm|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Multiple myeloma|Neoplasm of brain|Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Acute myeloid leukemia|Lung adenocarcinoma|Small cell lung carcinoma|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 248_ARG | GLY |
ClinVar chr17:7577539 rs121912651 |
Pathogenic/Likely pathogenic | - | 0.9985 | Uterine carcinosarcoma|Pancreatic adenocarcinoma|Breast neoplasm|Neoplasm of the large intestine|Squamous cell lung carcinoma|Multiple myeloma|Brainstem glioma|Ovarian serous cystadenocarcinoma|B-cell chronic lymphocytic leukemia|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Myelodysplastic syndrome|Carcinoma of esophagus|Malignant neoplasm of body of uterus|Neoplasm of brain|Prostate adenocarcinoma|Small cell lung carcinoma|Hepatocellular carcinoma|Acute myeloid leukemia|Gastric adenocarcinoma|Medulloblastoma|Glioblastoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Squamous cell carcinoma of the skin|Hereditary cancer-predisposing syndrome|Carcinoma of colon [MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MedGen:C0153574|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0002032,MedGen:C0699790] | |
| 249_ARG | GLY |
VAR_005985
rs587782082 |
US | - | 0.9979 | Sporadic cancers | |
| 249_ARG | SER |
VAR_005986
rs28934571 |
US | - | 0.9995 | Sporadic cancers | |
| 249_ARG | MET |
VAR_033037
rs587782329 |
US | - | 0.9991 | Sporadic cancers | |
| 249_ARG | ILE |
VAR_045247
- |
US | - | 0.9981 | A sporadic cancer | |
| 249_ARG | LYS |
VAR_045248
rs587782329 |
US | - | 0.9066 | Sporadic cancers | |
| 249_ARG | THR |
VAR_045249
rs587782329 |
US | - | 0.9994 | Sporadic cancers | |
| 249_ARG | TRP |
VAR_045250
rs587782082 |
US | - | 0.9904 | Sporadic cancers | |
| 249_ARG | ASN |
VAR_045856
- |
US | - | 0.9988 | A sporadic cancer | |
| 249_ARG | SER |
ClinVar chr17:7577534 rs28934571 |
Pathogenic/Likely pathogenic | - | 0.9995 | Hepatocellular carcinoma|Cervical cancer|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Squamous cell carcinoma of the head and neck|not provided [Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030079,MONDO:MONDO:0002974,MedGen:C4048328,OMIM:603956|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C3661900] | |
| 249_ARG | THR |
ClinVar chr17:7577535 rs587782329 |
Pathogenic | - | 0.9994 | Medulloblastoma|Glioblastoma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Malignant neoplasm of body of uterus|Breast neoplasm|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Hepatocellular carcinoma|Uterine carcinosarcoma|Small cell lung carcinoma|Gastric adenocarcinoma|Carcinoma of esophagus|Acute myeloid leukemia|Lung adenocarcinoma|not provided|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MedGen:C0153574|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 250_PRO | ALA |
VAR_045251
- |
US | - | 0.4876 | Sporadic cancers | |
| 250_PRO | HIS |
VAR_045252
- |
US | - | 0.9681 | Sporadic cancers | |
| 250_PRO | GLN |
VAR_045253
- |
US | - | 0.8981 | Sporadic cancers | |
| 250_PRO | SER |
VAR_045254
- |
US | - | 0.8246 | Sporadic cancers | |
| 250_PRO | THR |
VAR_045255
- |
US | - | 0.9194 | Sporadic cancers | |
| 250_PRO | PHE |
VAR_045857
- |
US | - | 0.9966 | Sporadic cancers | |
| 250_PRO | ASN |
VAR_045858
- |
US | - | 0.9671 | Sporadic cancers | |
| 250_PRO | LEU |
VAR_047192
rs1064794311 |
US | - | 0.9135 | Sporadic cancers | |
| 251_ILE | ASN |
VAR_005987
- |
US | - | 0.9968 | Sporadic cancers | |
| 251_ILE | SER |
VAR_033038
rs730882027 |
US | - | 0.992 | Sporadic cancers | |
| 251_ILE | PHE |
VAR_045256
- |
US | - | 0.961 | Sporadic cancers | |
| 251_ILE | LEU |
VAR_045257
rs730882007 |
US | - | 0.616 | Sporadic cancers | |
| 251_ILE | MET |
VAR_045258
rs878854074 |
LP/P | - | 0.794 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 251_ILE | THR |
VAR_045259
- |
US | - | 0.9767 | Sporadic cancers | |
| 251_ILE | VAL |
VAR_045260
- |
US | - | 0.3679 | Sporadic cancers | |
| 251_ILE | LEU |
ClinVar chr17:7577530 rs730882007 |
Pathogenic/Likely pathogenic | - | 0.616 | not provided|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Gastric cancer|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 251_ILE | PHE |
ClinVar chr17:7577530 rs730882007 |
Likely pathogenic | - | 0.961 | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 252_LEU | PRO |
VAR_005988
rs121912653 |
LP/P | - | 0.9967 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 252_LEU | PHE |
VAR_045261
- |
US | - | 0.3774 | Sporadic cancers | |
| 252_LEU | HIS |
VAR_045262
- |
US | - | 0.6136 | A sporadic cancer | |
| 252_LEU | ILE |
VAR_045263
- |
US | - | 0.09 | Sporadic cancers | |
| 252_LEU | VAL |
VAR_045264
- |
US | - | 0.0882 | A sporadic cancer | |
| 253_THR | ALA |
VAR_045265
- |
US | - | 0.5944 | Sporadic cancers | |
| 253_THR | ILE |
VAR_045266
- |
US | - | 0.9634 | Sporadic cancers | |
| 253_THR | ASN |
VAR_045267
rs1555525465 |
US | - | 0.9499 | Sporadic cancers | |
| 253_THR | SER |
VAR_045268
- |
US | - | 0.6338 | Sporadic cancers | |
| 253_THR | PRO |
VAR_047193
- |
US | - | 0.9882 | Sporadic cancers | |
| 253_THR | ALA |
ClinVar chr17:7577524 rs1597364185 |
Pathogenic/Likely pathogenic | - | 0.5944 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 254_ILE | ASN |
VAR_017908
- |
US | - | 0.9911 | Sporadic cancers | |
| 254_ILE | THR |
VAR_017909
- |
US | - | 0.9725 | Sporadic cancers | |
| 254_ILE | PHE |
VAR_045269
- |
US | - | 0.935 | A sporadic cancer | |
| 254_ILE | LEU |
VAR_045270
- |
US | - | 0.6108 | A sporadic cancer | |
| 254_ILE | MET |
VAR_045271
- |
US | - | 0.6518 | A sporadic cancer | |
| 254_ILE | SER |
VAR_045272
rs1330865474 |
US | - | 0.9848 | Sporadic cancers | |
| 254_ILE | VAL |
VAR_045273
rs746601313 |
US | - | 0.1871 | Sporadic cancers | |
| 254_ILE | ASP |
VAR_045859
- |
US | - | 0.9995 | Sporadic cancers | |
| 254_ILE | ASN |
ClinVar chr17:7577520 rs1330865474 |
Pathogenic | - | 0.9911 | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 254_ILE | THR |
ClinVar chr17:7577520 - |
Pathogenic/Likely pathogenic | - | 0.9725 | Hereditary cancer-predisposing syndrome|Acute myeloid leukemia|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 255_ILE | PHE |
VAR_045274
rs1057519995 |
US | - | 0.7283 | Sporadic cancers | |
| 255_ILE | MET |
VAR_045275
- |
US | - | 0.4549 | Sporadic cancers | |
| 255_ILE | ASN |
VAR_045276
rs876659675 |
US | - | 0.9967 | Sporadic cancers | |
| 255_ILE | SER |
VAR_045277
rs876659675 |
US | - | 0.9923 | Sporadic cancers | |
| 255_ILE | THR |
VAR_045278
rs876659675 |
US | - | 0.9812 | Sporadic cancers | |
| 255_ILE | VAL |
VAR_045279
- |
US | - | 0.1835 | Sporadic cancers | |
| 256_THR | ILE |
VAR_045280
- |
US | - | 0.975 | A brain tumor with no family history | |
| 256_THR | LYS |
VAR_045281
- |
US | - | 0.9946 | Sporadic cancers | |
| 256_THR | PRO |
VAR_045282
- |
US | - | 0.9887 | Sporadic cancers | |
| 256_THR | SER |
VAR_045283
- |
US | - | 0.4732 | Sporadic cancers | |
| 257_LEU | PRO |
VAR_005989
- |
US | - | 0.9993 | Sporadic cancers | |
| 257_LEU | GLN |
VAR_045284
rs28934577 |
LP/P | - | 0.9953 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 257_LEU | ARG |
VAR_045285
rs28934577 |
US | - | 0.9938 | Sporadic cancers | |
| 257_LEU | VAL |
VAR_045286
- |
US | - | 0.6232 | Sporadic cancers | |
| 258_GLU | ASP |
VAR_005990
- |
US | - | 0.9944 | Sporadic cancers | |
| 258_GLU | LYS |
VAR_005991
rs121912652 |
LP/P | - | 0.9918 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 258_GLU | ALA |
VAR_045287
- |
US | - | 0.9822 | Sporadic cancers | |
| 258_GLU | GLY |
VAR_045288
rs1060501201 |
US | - | 0.9859 | Sporadic cancers | |
| 258_GLU | GLN |
VAR_045289
- |
US | - | 0.9505 | Sporadic cancers | |
| 258_GLU | VAL |
VAR_045290
- |
US | - | 0.9887 | Sporadic cancers | |
| 258_GLU | LEU |
VAR_045860
- |
US | - | 0.9966 | A sporadic cancer | |
| 258_GLU | LYS |
ClinVar chr17:7577509 rs121912652 |
Pathogenic/Likely pathogenic | - | 0.9918 | Li-Fraumeni syndrome 1|not provided|not specified|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000] | |
| 258_GLU | TER |
ClinVar chr17:7577509 rs121912652 |
Pathogenic | - | - | Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 259_ASP | TYR |
VAR_033039
- |
US | - | 0.8837 | Sporadic cancers | |
| 259_ASP | GLU |
VAR_045291
- |
US | - | 0.8705 | Sporadic cancers | |
| 259_ASP | GLY |
VAR_045292
rs745425759 |
US | - | 0.6494 | Sporadic cancers | |
| 259_ASP | HIS |
VAR_045293
- |
US | - | 0.9217 | Sporadic cancers | |
| 259_ASP | ASN |
VAR_045294
- |
US | - | 0.3388 | Sporadic cancers | |
| 259_ASP | VAL |
VAR_045295
- |
US | - | 0.9451 | Sporadic cancers | |
| 259_ASP | PRO |
VAR_045861
- |
US | - | 0.9924 | A sporadic cancer | |
| 259_ASP | SER |
VAR_045862
- |
US | - | 0.5538 | A sporadic cancer | |
| 259_ASP | ALA |
VAR_047194
- |
US | - | 0.8494 | A sporadic cancer | |
| 259_ASP | ALA |
ClinVar chr17:7577505 - |
Pathogenic | - | 0.8494 | Malignant lymphoma, large B-cell, diffuse [MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544] | |
| 260_SER | ALA |
VAR_045296
- |
US | - | 0.0661 | Sporadic cancers | |
| 260_SER | CYS |
VAR_045297
- |
US | - | 0.0973 | Sporadic cancers | |
| 260_SER | PHE |
VAR_045298
- |
US | - | 0.1977 | Sporadic cancers | |
| 260_SER | PRO |
VAR_045299
- |
US | - | 0.0896 | Sporadic cancers | |
| 260_SER | THR |
VAR_045300
- |
US | - | 0.0865 | A sporadic cancer | |
| 260_SER | TYR |
VAR_045301
rs876658916 |
US | - | 0.2029 | Sporadic cancers | |
| 261_SER | CYS |
VAR_045302
- |
US | - | 0.087 | A sporadic cancer | |
| 261_SER | GLY |
VAR_045303
- |
US | - | 0.0786 | Sporadic cancers | |
| 261_SER | ILE |
VAR_045304
- |
US | - | 0.205 | Sporadic cancers | |
| 261_SER | ASN |
VAR_045305
- |
US | - | 0.08 | A sporadic cancer | |
| 261_SER | ARG |
VAR_045306
- |
US | - | 0.2371 | Sporadic cancers | |
| 262_GLY | CYS |
VAR_045307
rs200579969 |
US | - | 0.8435 | A sporadic cancer | |
| 262_GLY | SER |
VAR_045308
rs200579969 |
US | - | 0.6981 | Sporadic cancers | |
| 262_GLY | VAL |
VAR_045309
rs1131691025 |
US | - | 0.9878 | Sporadic cancers | |
| 262_GLY | HIS |
VAR_045863
- |
US | - | 0.9694 | A sporadic cancer | |
| 262_GLY | ASP |
VAR_047196
- |
US | - | 0.9609 | Sporadic cancers | |
| 263_ASN | ASP |
VAR_045310
rs72661119 |
US | - | 0.2109 | Sporadic cancers | |
| 263_ASN | HIS |
VAR_045311
- |
US | - | 0.0689 | Sporadic cancers | |
| 263_ASN | ILE |
VAR_045312
- |
US | - | 0.1494 | Sporadic cancers | |
| 263_ASN | LYS |
VAR_045313
- |
US | - | 0.1437 | A sporadic cancer | |
| 263_ASN | SER |
VAR_045314
- |
US | - | 0.093 | A sporadic cancer | |
| 263_ASN | ASP |
gnomAD chr17:7577151 rs72661119 |
- | 0.000113647 | 0.2109 | - | |
| 264_LEU | ILE |
VAR_045315
- |
US | - | 0.1043 | Sporadic cancers | |
| 264_LEU | PRO |
VAR_045316
rs1555525353 |
US | - | 0.8569 | A sporadic cancer | |
| 264_LEU | GLN |
VAR_045317
- |
US | - | 0.8352 | A sporadic cancer | |
| 264_LEU | ARG |
VAR_045318
- |
US | - | 0.8804 | Sporadic cancers | |
| 264_LEU | VAL |
VAR_045319
- |
US | - | 0.0848 | A sporadic cancer | |
| 264_LEU | VAL |
8.3kJPN chr17:7577148 - |
- | 0.0001 | 0.0848 | - | |
| 265_LEU | MET |
VAR_045320
- |
US | - | 0.4348 | Sporadic cancers | |
| 265_LEU | PRO |
VAR_045321
rs879253942 |
LP/P | - | 0.9913 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 265_LEU | GLN |
VAR_045322
- |
US | - | 0.9105 | Sporadic cancers | |
| 265_LEU | ARG |
VAR_047197
- |
US | - | 0.8691 | Sporadic cancers | |
| 265_LEU | PRO |
ClinVar chr17:7577144 rs879253942 |
Pathogenic/Likely pathogenic | - | 0.9913 | not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Rhabdomyosarcoma [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780] | |
| 265_LEU | GLN |
ClinVar chr17:7577144 rs879253942 |
Pathogenic/Likely pathogenic | - | 0.9105 | Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 266_GLY | ALA |
VAR_045323
- |
US | - | 0.8482 | Sporadic cancers | |
| 266_GLY | GLU |
VAR_045324
rs193920774 |
US | - | 0.9988 | Sporadic cancers | |
| 266_GLY | ARG |
VAR_045325
rs1057519990 |
US | - | 0.9986 | Sporadic cancers | |
| 266_GLY | VAL |
VAR_045326
rs193920774 |
US | - | 0.9956 | Sporadic cancers | |
| 266_GLY | GLU |
ClinVar chr17:7577141 rs193920774 |
Pathogenic/Likely pathogenic | - | 0.9988 | Malignant tumor of prostate|Neoplasm of the large intestine|Squamous cell lung carcinoma|not provided|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Glioblastoma|Transitional cell carcinoma of the bladder|Hereditary cancer-predisposing syndrome|Neoplasm of brain|Uterine carcinosarcoma|Carcinoma of esophagus|B-cell chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the skin|Malignant melanoma of skin|Breast neoplasm|Small cell lung carcinoma|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,Orphanet:1331|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MedGen:C3661900|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C0153574|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 266_GLY | ARG |
ClinVar chr17:7577142 rs1057519990 |
Pathogenic | - | 0.9986 | Glioblastoma|Breast neoplasm|Lung adenocarcinoma|Neoplasm of the large intestine|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Carcinoma of esophagus|Neoplasm of brain|Squamous cell carcinoma of the skin|Uterine carcinosarcoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|B-cell chronic lymphocytic leukemia|Malignant neoplasm of body of uterus|Hepatocellular carcinoma|Small cell lung carcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MedGen:C0153574|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 266_GLY | ARG |
ClinVar chr17:7577142 rs1057519990 |
Pathogenic | - | 0.9986 | Li-Fraumeni syndrome|Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 266_GLY | TER |
ClinVar chr17:7577142 rs1057519990 |
Pathogenic | - | - | Lung adenocarcinoma|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 267_ARG | TRP |
VAR_036507
rs55832599 |
US | - | 0.9682 | Sporadic cancers | |
| 267_ARG | GLY |
VAR_045327
- |
US | - | 0.9913 | Sporadic cancers | |
| 267_ARG | HIS |
VAR_045328
- |
US | - | 0.928 | A sporadic cancer | |
| 267_ARG | PRO |
VAR_045329
rs587780075 |
US | - | 0.9992 | Sporadic cancers | |
| 267_ARG | GLN |
VAR_045330
rs587780075 |
LP/P | - | 0.8812 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 267_ARG | TRP |
ClinVar chr17:7577139 rs55832599 |
Pathogenic/Likely pathogenic | - | 0.9682 | Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|11 conditions|Familial cancer of breast|Adrenocortical carcinoma, hereditary|Lip and oral cavity carcinoma|Li-Fraumeni syndrome 1|Breast and/or ovarian cancer [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|11 conditions|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MONDO:MONDO:0023644,MedGen:C0220641|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:CN221562] | |
| 267_ARG | GLY |
ClinVar chr17:7577139 - |
Pathogenic | - | 0.9913 | Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 267_ARG | ARG |
ClinVar chr17:7577137 - |
Likely pathogenic | - | - | Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519] | |
| 268_ASN | HIS |
VAR_045331
- |
US | - | 0.1252 | Sporadic cancers | |
| 268_ASN | ILE |
VAR_045332
- |
US | - | 0.4467 | Sporadic cancers | |
| 268_ASN | LYS |
VAR_045333
- |
US | - | 0.3993 | A sporadic cancer | |
| 268_ASN | SER |
VAR_045334
- |
US | - | 0.0787 | Sporadic cancers | |
| 268_ASN | TYR |
VAR_045335
- |
US | - | 0.2266 | A sporadic cancer | |
| 268_ASN | PHE |
VAR_045864
- |
US | - | 0.6464 | A sporadic cancer | |
| 269_SER | CYS |
VAR_045336
- |
US | - | 0.0938 | Sporadic cancers | |
| 269_SER | GLY |
VAR_045337
- |
US | - | 0.2576 | Sporadic cancers | |
| 269_SER | ASN |
VAR_045338
- |
US | - | 0.4728 | Sporadic cancers | |
| 269_SER | ARG |
VAR_045339
- |
US | - | 0.9398 | Sporadic cancers | |
| 269_SER | THR |
VAR_045340
- |
US | - | 0.1301 | A sporadic cancer | |
| 269_SER | ILE |
VAR_047198
- |
US | - | 0.4663 | A sporadic cancer | |
| 269_SER | ILE |
ClinVar chr17:7577132 - |
Likely pathogenic | - | 0.4663 | Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519] | |
| 270_PHE | CYS |
VAR_045341
rs1057519986 |
US | - | 0.9612 | Sporadic cancers | |
| 270_PHE | ILE |
VAR_045342
rs1057519988 |
US | - | 0.9152 | Sporadic cancers | |
| 270_PHE | LEU |
VAR_045343
rs1057519987 |
US | - | 0.9944 | Sporadic cancers | |
| 270_PHE | SER |
VAR_045344
rs1057519986 |
US | - | 0.9952 | Sporadic cancers | |
| 270_PHE | VAL |
VAR_045345
rs1057519988 |
US | - | 0.882 | Sporadic cancers | |
| 270_PHE | TYR |
VAR_045346
- |
US | - | 0.8656 | Sporadic cancers | |
| 270_PHE | SER |
ClinVar chr17:7577129 rs1057519986 |
Pathogenic/Likely pathogenic | - | 0.9952 | Carcinoma of esophagus|Gastric adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Neoplasm of brain|Breast neoplasm|not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 270_PHE | LEU |
ClinVar chr17:7577128 rs1057519987 |
Likely pathogenic | - | 0.9944 | Breast neoplasm|Carcinoma of esophagus|Neoplasm of brain|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Gastric adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723] | |
| 270_PHE | VAL |
ClinVar chr17:7577130 rs1057519988 |
Pathogenic | - | 0.882 | Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Lung adenocarcinoma|Gastric adenocarcinoma|Neoplasm of brain|Breast neoplasm|Ovarian serous cystadenocarcinoma|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 271_GLU | LYS |
VAR_036508
rs1060501191 |
US | - | 0.9532 | Sporadic cancers | |
| 271_GLU | ALA |
VAR_045347
- |
US | - | 0.8063 | Sporadic cancers | |
| 271_GLU | ASP |
VAR_045348
- |
US | - | 0.7768 | Sporadic cancers | |
| 271_GLU | GLY |
VAR_045349
- |
US | - | 0.8534 | Sporadic cancers | |
| 271_GLU | GLN |
VAR_045350
- |
US | - | 0.7442 | Sporadic cancers | |
| 271_GLU | PRO |
VAR_045865
- |
US | - | 0.9819 | A sporadic cancer | |
| 271_GLU | ARG |
VAR_045866
- |
US | - | 0.959 | A sporadic cancer | |
| 271_GLU | VAL |
VAR_047199
- |
US | - | 0.9457 | An osteosarcoma with no family history | |
| 271_GLU | TER |
ClinVar chr17:7577127 rs1060501191 |
Pathogenic | - | - | Neoplasm of ovary|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 272_VAL | LEU |
VAR_005992
rs121912657 |
LP/P | - | 0.9653 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 272_VAL | ALA |
VAR_045351
- |
US | - | 0.9028 | A familial cancer not matching LFS | |
| 272_VAL | GLU |
VAR_045352
rs876660333 |
US | - | 0.9937 | Sporadic cancers | |
| 272_VAL | GLY |
VAR_045353
rs876660333 |
US | - | 0.8186 | Sporadic cancers | |
| 272_VAL | MET |
VAR_045354
rs121912657 |
US | - | 0.9572 | Sporadic cancers | |
| 272_VAL | LEU |
ClinVar chr17:7577124 rs121912657 |
Likely pathogenic | - | 0.9653 | Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Breast neoplasm|Pancreatic adenocarcinoma|Papillary renal cell carcinoma type 1|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the skin|Lung adenocarcinoma|Medulloblastoma|Multiple myeloma|Li-Fraumeni syndrome [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|MedGen:C0153574|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 272_VAL | MET |
ClinVar chr17:7577124 rs121912657 |
Pathogenic | - | 0.9572 | Hereditary cancer-predisposing syndrome|Transitional cell carcinoma of the bladder|Papillary renal cell carcinoma type 1|Squamous cell carcinoma of the skin|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Lung adenocarcinoma|Breast neoplasm|Ovarian serous cystadenocarcinoma|Medulloblastoma|Neoplasm of the large intestine|Gastric adenocarcinoma|Li-Fraumeni syndrome|Multiple myeloma|Neoplasm of ovary|Li-Fraumeni syndrome 1|not provided [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MedGen:C0153574|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900] | |
| 272_VAL | LEU |
ClinVar chr17:7577124 rs121912657 |
Pathogenic/Likely pathogenic | - | 0.9653 | Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 273_ARG | CYS |
VAR_005993
rs121913343 |
LP/P | - | 0.9945 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 273_ARG | GLY |
VAR_005994
- |
LP/P | - | 0.9981 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 273_ARG | HIS |
VAR_005995
rs28934576 |
LP/P | - | 0.9889 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 273_ARG | LEU |
VAR_036509
rs28934576 |
LP/P | - | 0.9954 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 273_ARG | PRO |
VAR_045355
rs28934576 |
US | - | 0.9988 | Sporadic cancers | |
| 273_ARG | GLN |
VAR_045356
- |
US | - | 0.9917 | Sporadic cancers | |
| 273_ARG | SER |
VAR_045357
rs121913343 |
US | - | 0.9993 | A familial cancer not matching LFS | |
| 273_ARG | ASN |
VAR_045867
- |
US | - | 0.9995 | A sporadic cancer | |
| 273_ARG | TYR |
VAR_045868
- |
US | - | 0.9985 | A sporadic cancer | |
| 273_ARG | HIS |
ClinVar chr17:7577120 rs28934576 |
Pathogenic | - | 0.9889 | Li-Fraumeni syndrome 1|Thyroid gland undifferentiated (anaplastic) carcinoma|Hereditary cancer-predisposing syndrome|not provided|B-cell chronic lymphocytic leukemia|Adrenal cortex carcinoma|Squamous cell lung carcinoma|Gastric adenocarcinoma|Lung adenocarcinoma|Multiple myeloma|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Neoplasm of brain|Ovarian serous cystadenocarcinoma|Brainstem glioma|Transitional cell carcinoma of the bladder|Glioblastoma|Uterine carcinosarcoma|Malignant melanoma of skin|Neoplasm|Carcinoma of esophagus|Small cell lung carcinoma|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Acute myeloid leukemia|Medulloblastoma|Breast neoplasm|Hepatocellular carcinoma|Neoplasm of the large intestine|Li-Fraumeni syndrome|Neoplasm of ovary|Multiple myeloma [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0011779,MONDO:MONDO:0006468,MedGen:C0238461,Orphanet:142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MedGen:C0153574|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443]; Colorectal cancer|Rhabdomyosarcoma|Malignant tumor of breast|Familial cancer of breast|12 conditions|Gastric cancer|Breast and/or ovarian cancer|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|12 conditions|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MedGen:CN221562|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 273_ARG | CYS |
ClinVar chr17:7577121 rs121913343 |
Pathogenic/Likely pathogenic | - | 0.9945 | Li-Fraumeni syndrome 1|Malignant tumor of prostate|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Breast neoplasm|Neoplasm|Hepatocellular carcinoma|Acute myeloid leukemia|Neoplasm of ovary|Adrenocortical carcinoma, hereditary [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,Orphanet:1331|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 273_ARG | PRO |
ClinVar chr17:7577120 rs28934576 |
Pathogenic | - | 0.9988 | Hereditary cancer-predisposing syndrome|Multiple myeloma|Adrenal cortex carcinoma|Transitional cell carcinoma of the bladder|Malignant neoplasm of body of uterus|Prostate adenocarcinoma|Breast neoplasm|Medulloblastoma|Uterine carcinosarcoma|B-cell chronic lymphocytic leukemia|Squamous cell lung carcinoma|Pancreatic adenocarcinoma|Malignant melanoma of skin|Neoplasm of brain|Hepatocellular carcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Small cell lung carcinoma|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|Gastric adenocarcinoma|Carcinoma of esophagus|Glioblastoma|Brainstem glioma|Acute myeloid leukemia|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MedGen:C0153574|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 273_ARG | LEU |
ClinVar chr17:7577120 rs28934576 |
Pathogenic | - | 0.9954 | Squamous cell carcinoma of the head and neck|Neoplasm of brain|Pancreatic adenocarcinoma|B-cell chronic lymphocytic leukemia|Lung adenocarcinoma|Neoplasm of the large intestine|Malignant melanoma of skin|Medulloblastoma|Prostate adenocarcinoma|Adrenal cortex carcinoma|Hepatocellular carcinoma|Brainstem glioma|Malignant neoplasm of body of uterus|Carcinoma of esophagus|Small cell lung carcinoma|Acute myeloid leukemia|Breast neoplasm|Multiple myeloma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Glioblastoma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Uterine carcinosarcoma|Metastatic pancreatic neuroendocrine tumours|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|not provided|Li-Fraumeni syndrome 1|12 conditions [MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MedGen:C0153574|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0006485,MedGen:C0280630||MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions] | |
| 273_ARG | SER |
ClinVar chr17:7577121 rs121913343 |
Pathogenic | - | 0.9993 | Lung adenocarcinoma|Glioblastoma|Ovarian serous cystadenocarcinoma|Malignant neoplasm of body of uterus|B-cell chronic lymphocytic leukemia|Hepatocellular carcinoma|Neoplasm of brain|Malignant melanoma of skin|Medulloblastoma|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Multiple myeloma|Brainstem glioma|Adrenal cortex carcinoma|Prostate adenocarcinoma|Small cell lung carcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Neoplasm of the large intestine|Gastric adenocarcinoma|Uterine carcinosarcoma|Acute myeloid leukemia|Breast neoplasm|Transitional cell carcinoma of the bladder|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006046,MedGen:C0279663|MedGen:C0153574|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 273_ARG | GLY |
ClinVar chr17:7577121 rs121913343 |
Pathogenic | - | 0.9981 | Neoplasm of ovary|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|12 conditions [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions] | |
| 274_VAL | PHE |
VAR_005997
rs1057520005 |
US | - | 0.9915 | Sporadic cancers | |
| 274_VAL | ALA |
VAR_045358
rs1057520006 |
US | - | 0.9908 | Sporadic cancers | |
| 274_VAL | ASP |
VAR_045359
rs1057520006 |
US | - | 0.9991 | Sporadic cancers | |
| 274_VAL | ILE |
VAR_045360
- |
US | - | 0.0913 | Sporadic cancers | |
| 274_VAL | LEU |
VAR_045361
rs1057520005 |
US | - | 0.967 | Sporadic cancers | |
| 274_VAL | GLY |
VAR_047200
rs1057520006 |
US | - | 0.989 | Sporadic cancers | |
| 275_CYS | TYR |
VAR_005998
rs863224451 |
LP/P | - | 0.9996 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 275_CYS | TRP |
VAR_005999
rs1555525279 |
US | - | 0.9994 | Sporadic cancers | |
| 275_CYS | PHE |
VAR_045362
rs863224451 |
US | - | 0.9978 | Sporadic cancers | |
| 275_CYS | GLY |
VAR_045363
- |
US | - | 0.9926 | Sporadic cancers | |
| 275_CYS | ARG |
VAR_045364
rs1057519983 |
US | - | 0.9995 | Sporadic cancers | |
| 275_CYS | SER |
VAR_045365
rs863224451 |
US | - | 0.9933 | Sporadic cancers | |
| 275_CYS | TYR |
ClinVar chr17:7577114 rs863224451 |
Pathogenic/Likely pathogenic | - | 0.9996 | Li-Fraumeni syndrome|Multiple myeloma|Neoplasm of brain|Pancreatic adenocarcinoma|Squamous cell carcinoma of the head and neck|not provided|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Malignant melanoma of skin|Hepatocellular carcinoma|Breast neoplasm|B-cell chronic lymphocytic leukemia|Adrenal cortex carcinoma|Glioblastoma|Papillary renal cell carcinoma type 1|Lung adenocarcinoma|Neoplasm of the large intestine|Carcinoma of esophagus|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Breast carcinoma|Adrenocortical carcinoma, hereditary|Li-Fraumeni syndrome 1|Acute myeloid leukemia [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C3661900|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519] | |
| 275_CYS | PHE |
ClinVar chr17:7577114 rs863224451 |
Pathogenic | - | 0.9978 | Lung adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of brain|Papillary renal cell carcinoma type 1|Breast neoplasm|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Multiple myeloma|Transitional cell carcinoma of the bladder|Carcinoma of esophagus|Hepatocellular carcinoma|Adrenal cortex carcinoma|Neoplasm of the large intestine|B-cell chronic lymphocytic leukemia|Glioblastoma|Neoplasm of ovary|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 275_CYS | TRP |
ClinVar chr17:7577113 rs1555525279 |
Likely pathogenic | - | 0.9994 | Hereditary cancer-predisposing syndrome|Neoplasm of ovary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000] | |
| 275_CYS | TER |
ClinVar chr17:7577113 rs1555525279 |
Pathogenic | - | - | Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 276_ALA | ASP |
VAR_045366
rs786202082 |
US | - | 0.9993 | Sporadic cancers | |
| 276_ALA | GLY |
VAR_045367
rs786202082 |
US | - | 0.9785 | Sporadic cancers | |
| 276_ALA | PRO |
VAR_045368
rs1131691029 |
US | - | 0.9913 | Sporadic cancers | |
| 276_ALA | SER |
VAR_045369
- |
US | - | 0.6879 | Sporadic cancers | |
| 276_ALA | THR |
VAR_045370
- |
US | - | 0.97 | Sporadic cancers | |
| 276_ALA | VAL |
VAR_045371
- |
US | - | 0.9902 | Sporadic cancers | |
| 276_ALA | GLY |
ClinVar chr17:7577111 rs786202082 |
Pathogenic | - | 0.9785 | Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 277_CYS | GLY |
VAR_006000
rs1064795369 |
US | - | 0.9972 | Sporadic cancers | |
| 277_CYS | PHE |
VAR_045372
rs763098116 |
US | - | 0.9904 | Sporadic cancers | |
| 277_CYS | ARG |
VAR_045373
rs1064795369 |
US | - | 0.9996 | Sporadic cancers | |
| 277_CYS | SER |
VAR_045374
- |
US | - | 0.9837 | Sporadic cancers | |
| 277_CYS | TYR |
VAR_045375
rs763098116 |
US | - | 0.9986 | An osteosarcoma with no family history | |
| 277_CYS | TRP |
VAR_047201
- |
US | - | 0.9979 | Sporadic cancers | |
| 277_CYS | TER |
ClinVar chr17:7577107 rs1057523347 |
Pathogenic | - | - | not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 278_PRO | ALA |
VAR_006001
rs17849781 |
US | - | 0.9934 | Sporadic cancers | |
| 278_PRO | HIS |
VAR_006002
rs876659802 |
US | - | 0.9993 | Sporadic cancers | |
| 278_PRO | LEU |
VAR_006003
rs876659802 |
LP/P | - | 0.9972 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 278_PRO | SER |
VAR_006004
rs17849781 |
LP/P | - | 0.9988 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 278_PRO | THR |
VAR_006005
rs17849781 |
LP/P | - | 0.9974 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 278_PRO | ARG |
VAR_045376
rs876659802 |
US | - | 0.9968 | Sporadic cancers | |
| 278_PRO | PHE |
VAR_045869
- |
US | - | 0.9999 | Sporadic cancers | |
| 278_PRO | LEU |
ClinVar chr17:7577105 rs876659802 |
Pathogenic | - | 0.9972 | Hereditary cancer-predisposing syndrome|Neoplasm of brain|Squamous cell carcinoma of the skin|Lung adenocarcinoma|Malignant neoplasm of body of uterus|Multiple myeloma|Neoplasm of the large intestine|Breast neoplasm|Carcinoma of esophagus|Squamous cell lung carcinoma|Malignant melanoma of skin|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of ovary|Li-Fraumeni syndrome|Gallbladder cancer|not provided [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MedGen:C0153574|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0005411,MedGen:C0153452|MedGen:C3661900] | |
| 278_PRO | SER |
ClinVar chr17:7577106 rs17849781 |
Pathogenic/Likely pathogenic | - | 0.9988 | Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Lung adenocarcinoma|Neoplasm of brain|Breast neoplasm|Carcinoma of esophagus|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|not provided|Squamous cell lung carcinoma|Multiple myeloma|Neoplasm of the large intestine|Li-Fraumeni syndrome|Neoplasm of ovary|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MedGen:C0153574|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006046,MedGen:C0279663|MedGen:C3661900|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 278_PRO | THR |
ClinVar chr17:7577106 rs17849781 |
Pathogenic | - | 0.9974 | Malignant neoplasm of body of uterus|Lung adenocarcinoma|Breast neoplasm|Ovarian serous cystadenocarcinoma|Multiple myeloma|Squamous cell lung carcinoma|Malignant melanoma of skin|Neoplasm of brain|Carcinoma of esophagus|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Neoplasm of ovary|Poly (ADP-Ribose) polymerase inhibitor response|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome [MedGen:C0153574|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MedGen:CN322715|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 279_GLY | GLU |
VAR_006006
rs1064793881 |
US | - | 0.9986 | Sporadic cancers | |
| 279_GLY | ARG |
VAR_045377
rs1555525248 |
US | - | 0.9973 | Sporadic cancers | |
| 279_GLY | VAL |
VAR_045378
- |
US | - | 0.9895 | Sporadic cancers | |
| 279_GLY | TRP |
VAR_045379
- |
US | - | 0.9965 | Sporadic cancers | |
| 280_ARG | LYS |
VAR_006007
rs121912660 |
US | - | 0.9936 | A familial cancer not matching LFS | |
| 280_ARG | ILE |
VAR_006008
rs121912660 |
US | - | 0.9996 | Sporadic cancers | |
| 280_ARG | THR |
VAR_006009
rs121912660 |
US | - | 0.9997 | Sporadic cancers | |
| 280_ARG | GLY |
VAR_045380
rs753660142 |
US | - | 0.9989 | Sporadic cancers | |
| 280_ARG | PRO |
VAR_045381
- |
US | - | 0.9992 | A sporadic cancer | |
| 280_ARG | SER |
VAR_045382
- |
US | - | 0.9997 | Sporadic cancers | |
| 280_ARG | THR |
ClinVar chr17:7577099 rs121912660 |
Pathogenic/Likely pathogenic | - | 0.9997 | Nasopharyngeal carcinoma|Li-Fraumeni syndrome|Small cell lung carcinoma|Neoplasm of uterine cervix|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Breast neoplasm|Acute myeloid leukemia|Transitional cell carcinoma of the bladder|Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Gastric adenocarcinoma|Malignant melanoma of skin|Lung adenocarcinoma|Nasopharyngeal neoplasm|Carcinoma of esophagus|Neoplasm of brain|Uterine carcinosarcoma|Hereditary cancer-predisposing syndrome|Malignant tumor of urinary bladder [MONDO:MONDO:0015459,MedGen:C2931822,OMIM:607107,Orphanet:150|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980] | |
| 281_ASP | ALA |
VAR_006010
rs587781525 |
US | - | 0.9997 | Sporadic cancers | |
| 281_ASP | GLU |
VAR_006011
rs1057519984 |
US | - | 0.9991 | Sporadic cancers | |
| 281_ASP | GLY |
VAR_006012
rs587781525 |
US | - | 0.9995 | A brain tumor with no family history | |
| 281_ASP | HIS |
VAR_006013
rs764146326 |
US | - | 0.9993 | Sporadic cancers | |
| 281_ASP | VAL |
VAR_006014
rs587781525 |
US | - | 0.9997 | A familial cancer not matching LFS | |
| 281_ASP | TYR |
VAR_045383
rs764146326 |
US | - | 0.9959 | Sporadic cancers | |
| 281_ASP | ARG |
VAR_045870
- |
US | - | 0.9993 | A sporadic cancer | |
| 281_ASP | ASN |
VAR_047202
rs764146326 |
LP/P | - | 0.9988 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 281_ASP | GLY |
ClinVar chr17:7577096 rs587781525 |
Pathogenic | - | 0.9995 | Hereditary cancer-predisposing syndrome|Malignant neoplasm of body of uterus|Neuroblastoma|Papillary renal cell carcinoma type 1|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Transitional cell carcinoma of the bladder|Squamous cell lung carcinoma|Multiple myeloma|B-cell chronic lymphocytic leukemia|Uterine carcinosarcoma|Glioblastoma|Squamous cell carcinoma of the skin|Breast neoplasm|Pancreatic adenocarcinoma|Hepatocellular carcinoma|Gastric adenocarcinoma|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not provided [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C0153574|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900] | |
| 281_ASP | VAL |
ClinVar chr17:7577096 rs587781525 |
Pathogenic/Likely pathogenic | - | 0.9997 | not provided|Hereditary cancer-predisposing syndrome|B-cell chronic lymphocytic leukemia|Glioblastoma|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Pancreatic adenocarcinoma|Lung adenocarcinoma|Malignant melanoma of skin|Multiple myeloma|Gastric adenocarcinoma|Hepatocellular carcinoma|Neuroblastoma|Malignant neoplasm of body of uterus|Squamous cell lung carcinoma|Uterine carcinosarcoma|Squamous cell carcinoma of the skin|Papillary renal cell carcinoma type 1|Squamous cell carcinoma of the head and neck|Breast neoplasm|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|MedGen:C0153574|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 281_ASP | TYR |
ClinVar chr17:7577097 rs764146326 |
Pathogenic | - | 0.9959 | Transitional cell carcinoma of the bladder|Breast neoplasm|B-cell chronic lymphocytic leukemia|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Multiple myeloma|Lung adenocarcinoma|Papillary renal cell carcinoma type 1|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Squamous cell carcinoma of the skin|Malignant melanoma of skin|Hepatocellular carcinoma|Glioblastoma|Malignant neoplasm of body of uterus|Neuroblastoma|Uterine carcinosarcoma|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MedGen:C0153574|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 281_ASP | ASN |
ClinVar chr17:7577097 rs764146326 |
Pathogenic | - | 0.9988 | Multiple myeloma|Hepatocellular carcinoma|Neuroblastoma|B-cell chronic lymphocytic leukemia|Gastric adenocarcinoma|Glioblastoma|Squamous cell carcinoma of the skin|Breast neoplasm|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Uterine carcinosarcoma|Pancreatic adenocarcinoma|Papillary renal cell carcinoma type 1|Squamous cell lung carcinoma|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of ovary|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MedGen:C0153574|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 281_ASP | HIS |
ClinVar chr17:7577097 rs764146326 |
Pathogenic | - | 0.9993 | Malignant melanoma of skin|Uterine carcinosarcoma|Squamous cell lung carcinoma|B-cell chronic lymphocytic leukemia|Squamous cell carcinoma of the skin|Papillary renal cell carcinoma type 1|Gastric adenocarcinoma|Neuroblastoma|Squamous cell carcinoma of the head and neck|Multiple myeloma|Lung adenocarcinoma|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Pancreatic adenocarcinoma|Glioblastoma|Transitional cell carcinoma of the bladder|Breast neoplasm|Hepatocellular carcinoma|Gallbladder cancer|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MedGen:C0153574|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0005411,MedGen:C0153452|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 281_ASP | ALA |
ClinVar chr17:7577096 rs587781525 |
Likely pathogenic | - | 0.9997 | Uterine carcinosarcoma|Gastric adenocarcinoma|Breast neoplasm|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the skin|Multiple myeloma|Pancreatic adenocarcinoma|Neuroblastoma|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|B-cell chronic lymphocytic leukemia|Malignant melanoma of skin|Glioblastoma|Squamous cell lung carcinoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501] | |
| 281_ASP | GLU |
ClinVar chr17:7577095 rs1057519984 |
Likely pathogenic | - | 0.9991 | Li-Fraumeni syndrome|Carcinoma of colon|not provided|Neoplasm of ovary|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0002032,MedGen:C0699790|MedGen:C3661900|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 282_ARG | LEU |
VAR_006015
rs730882008 |
US | - | 0.9405 | Sporadic cancers | |
| 282_ARG | TRP |
VAR_006016
rs28934574 |
LP/P | - | 0.9462 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 282_ARG | GLY |
VAR_045384
rs28934574 |
LP/P | - | 0.9871 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 282_ARG | HIS |
VAR_045385
- |
US | - | 0.9375 | A sporadic cancer | |
| 282_ARG | PRO |
VAR_045386
rs730882008 |
US | - | 0.9994 | Sporadic cancers | |
| 282_ARG | GLN |
VAR_045387
rs730882008 |
US | - | 0.8664 | A familial cancer not matching LFS | |
| 282_ARG | TRP |
ClinVar chr17:7577094 rs28934574 |
Pathogenic/Likely pathogenic | - | 0.9462 | Li-fraumeni-like syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|not provided|Squamous cell carcinoma of the skin|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Neoplasm of the large intestine|Transitional cell carcinoma of the bladder|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Non-Hodgkin lymphoma|Malignant melanoma of skin|Carcinoma of esophagus|Lung adenocarcinoma|Glioblastoma|Prostate adenocarcinoma|Neoplasm of brain|Breast neoplasm|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Astrocytoma, anaplastic [MONDO:MONDO:0800290,MedGen:C2675080|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|MONDO:MONDO:0016684,MedGen:C0334579,Orphanet:251589]; Pleomorphic xanthoastrocytoma|Neoplasm of ovary|Colorectal cancer|Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype [Human Phenotype Ontology:HP:0033682,MONDO:MONDO:0016690,MedGen:C0334586,Orphanet:251607|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0858939,MedGen:C5669918] | |
| 282_ARG | GLY |
ClinVar chr17:7577094 rs28934574 |
Pathogenic | - | 0.9871 | Hereditary cancer-predisposing syndrome|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Papillary renal cell carcinoma type 1|Lung adenocarcinoma|Carcinoma of esophagus|Neoplasm of brain|Prostate adenocarcinoma|Glioblastoma|Malignant neoplasm of body of uterus|Gastric adenocarcinoma|Squamous cell lung carcinoma|Ovarian serous cystadenocarcinoma|Breast neoplasm|Non-Hodgkin lymphoma|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Malignant melanoma of skin|Neoplasm of the large intestine|Neoplasm of ovary|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MedGen:C0153574|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 282_ARG | PRO |
ClinVar chr17:7577093 rs730882008 |
Pathogenic/Likely pathogenic | - | 0.9994 | Neoplasm of brain|Non-Hodgkin lymphoma|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Lung adenocarcinoma|Malignant melanoma of skin|Papillary renal cell carcinoma type 1|Glioblastoma|Prostate adenocarcinoma|Squamous cell lung carcinoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Carcinoma of esophagus|Neoplasm of the large intestine|Malignant neoplasm of body of uterus|Breast neoplasm|Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|12 conditions [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:C0153574|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions] | |
| 283_ARG | CYS |
VAR_006017
rs149633775 |
LP/P | - | 0.6812 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 283_ARG | GLY |
VAR_006018
- |
US | - | 0.887 | Sporadic cancers | |
| 283_ARG | HIS |
VAR_006019
rs371409680 |
US | - | 0.549 | A brain tumor with no family history | |
| 283_ARG | PRO |
VAR_006020
- |
US | - | 0.9928 | Sporadic cancers | |
| 283_ARG | LEU |
VAR_045388
- |
US | - | 0.8316 | Sporadic cancers | |
| 283_ARG | SER |
VAR_045389
rs149633775 |
US | - | 0.9763 | A sporadic cancer | |
| 284_THR | ALA |
VAR_006021
- |
US | - | 0.2587 | Sporadic cancers | |
| 284_THR | PRO |
VAR_006022
rs1204379654 |
US | - | 0.912 | Sporadic cancers | |
| 284_THR | ILE |
VAR_045390
rs863224685 |
US | - | 0.5825 | Sporadic cancers | |
| 284_THR | LYS |
VAR_045391
- |
US | - | 0.7995 | Sporadic cancers | |
| 285_GLU | LYS |
VAR_006023
rs112431538 |
US | - | 0.9737 | Sporadic cancers | |
| 285_GLU | GLN |
VAR_006024
- |
LP/P | - | 0.9185 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 285_GLU | VAL |
VAR_006025
rs121912667 |
US | - | 0.9811 | Sporadic cancers | |
| 285_GLU | ALA |
VAR_045392
- |
US | - | 0.928 | A sporadic cancer | |
| 285_GLU | ASP |
VAR_045393
- |
US | - | 0.902 | Sporadic cancers | |
| 285_GLU | GLY |
VAR_045394
- |
US | - | 0.9509 | Sporadic cancers | |
| 285_GLU | VAL |
ClinVar chr17:7577084 rs121912667 |
Pathogenic | - | 0.9811 | Adrenocortical carcinoma, pediatric|Choroid plexus carcinoma|Li-Fraumeni syndrome [MedGen:C1859973|Human Phenotype Ontology:HP:0030392,MONDO:MONDO:0016718,MedGen:C0431109,Orphanet:251899|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 285_GLU | LYS |
ClinVar chr17:7577085 rs112431538 |
Pathogenic/Likely pathogenic | - | 0.9737 | not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Poly (ADP-Ribose) polymerase inhibitor response|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN322715|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 285_GLU | TER |
ClinVar chr17:7577085 - |
Pathogenic | - | - | Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 286_GLU | ALA |
VAR_006026
rs1057519985 |
LP/P | - | 0.8823 | Li-Fraumeni syndrome (LFS) [MIM:151623] | |
| 286_GLU | ASP |
VAR_006027
- |
US | - | 0.9266 | Sporadic cancers | |
| 286_GLU | GLY |
VAR_006028
rs1057519985 |
US | - | 0.8932 | Sporadic cancers | |
| 286_GLU | LYS |
VAR_006029
rs786201059 |
US | - | 0.9477 | Sporadic cancers | |
| 286_GLU | GLN |
VAR_006030
rs786201059 |
US | - | 0.8972 | Sporadic cancers | |
| 286_GLU | VAL |
VAR_045395
rs1057519985 |
US | - | 0.9153 | Sporadic cancers | |
| 286_GLU | LEU |
VAR_045871
- |
US | - | 0.9735 | A sporadic cancer | |
| 286_GLU | LYS |
ClinVar chr17:7577082 rs786201059 |
Pathogenic | - | 0.9477 | Hereditary cancer-predisposing syndrome|Transitional cell carcinoma of the bladder|not provided|Pancreatic adenocarcinoma|Vulvar adenocarcinoma of mammary gland type|Squamous cell carcinoma of the skin|Small cell lung carcinoma|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Acute myeloid leukemia|Neoplasm of the large intestine|Gastric adenocarcinoma|Breast neoplasm|Carcinoma of esophagus|Hepatocellular carcinoma|Malignant melanoma of skin|Neoplasm of brain|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MedGen:C3661900|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MedGen:C4288013|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524] | |
| 286_GLU | ALA |
ClinVar chr17:7577081 rs1057519985 |
Likely pathogenic | - | 0.8823 | Lung adenocarcinoma|Neoplasm of brain|Neoplasm of the large intestine|Hepatocellular carcinoma|Acute myeloid leukemia|Pancreatic adenocarcinoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Breast neoplasm|Malignant melanoma of skin|Carcinoma of esophagus|Gastric adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the skin|Small cell lung carcinoma [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573] | |
| 286_GLU | TER |
ClinVar chr17:7577082 rs786201059 |
Pathogenic | - | - | Neoplasm of ovary|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524] | |
| 287_GLU | ASP |
VAR_045396
rs748891343 |
US | - | 0.0988 | Sporadic cancers | |
| 287_GLU | GLY |
VAR_045397
- |
US | - | 0.1655 | Sporadic cancers | |
| 287_GLU | LYS |
VAR_045398
rs587782006 |
US | - | 0.2975 | Sporadic cancers | |
| 287_GLU | VAL |
VAR_045399
- |
US | - | 0.3116 | Sporadic cancers | |
| 287_GLU | ALA |
VAR_047204
- |
US | - | 0.1824 | A sporadic cancer | |
| 288_ASN | ASP |
VAR_045400
- |
US | - | 0.7619 | A sporadic cancer | |
| 288_ASN | LYS |
VAR_045401
- |
US | - | 0.7253 | Sporadic cancers | |
| 288_ASN | SER |
VAR_045402
- |
US | - | 0.3389 | Sporadic cancers | |
| 288_ASN | THR |
VAR_045403
- |
US | - | 0.3614 | Sporadic cancers | |
| 288_ASN | TYR |
VAR_045404
- |
US | - | 0.413 | Sporadic cancers | |
| 289_LEU | PHE |
VAR_045405
- |
US | - | 0.045 | Sporadic cancers | |
| 289_LEU | HIS |
VAR_045406
- |
US | - | 0.068 | Sporadic cancers | |
| 289_LEU | PRO |
VAR_045407
- |
US | - | 0.5712 | Sporadic cancers | |
| 289_LEU | ARG |
VAR_045408
- |
US | - | 0.0864 | A sporadic cancer | |
| 289_LEU | VAL |
VAR_045409
rs1555525154 |
US | - | 0.064 | Sporadic cancers |