| Geno
|
Mag
|
Summary
|
| (A;G)
|
7
|
Li-Fraumeni Syndrome (predicted)
|
| (C;C)
|
0
|
|
| (G;G)
|
0
|
common in clinvar
|
| (G;T)
|
7
|
Li-Fraumeni Syndrome (predicted)
|
rs28934575, also known as Gly245Ser or G245S, is a SNP in the p53 TP53 tumor suppressor gene.
The rare rs28934575(A) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 1565143]
This mutation is consistently marked as either pathogenic (causal) or likely pathogenic in ClinVar; see also OMIM 191170.0019.
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249
]
| ClinVar
|
| Risk
|
rs28934575(A;A) Rs28934575(C;C) rs28934575(T;T) |
| Alt
|
rs28934575(A;A) Rs28934575(C;C) rs28934575(T;T) |
| Reference
|
Rs28934575(G;G) |
| Significance |
Pathogenic |
| Disease |
Li-Fraumeni syndrome 1 not provided Uterine Carcinosarcoma Adenocarcinoma of lung Neoplasm of breast Ovarian Serous Cystadenocarcinoma Adenocarcinoma of stomach Glioblastoma Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Adenocarcinoma of prostate Brainstem glioma Squamous cell carcinoma of the head and neck Squamous cell carcinoma of lung Oesophageal carcinoma Neoplasm of brain Hepatocellular carcinoma Colorectal Neoplasms Hereditary cancer-predisposing syndrome Li-Fraumeni-like syndrome Adenocarcinoma Li-Fraumeni syndrome Neoplasm |
| Variation | info |
|---|
| Gene |
TP53 |
| CLNDBN |
Li-Fraumeni syndrome 1 not provided Uterine Carcinosarcoma Adenocarcinoma of lung Neoplasm of breast Ovarian Serous Cystadenocarcinoma Adenocarcinoma of stomach Glioblastoma Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Adenocarcinoma of prostate Brainstem glioma Squamous cell carcinoma of the head and neck Squamous cell carcinoma of lung Oesophageal carcinoma Neoplasm of brain Hepatocellular carcinoma Colorectal Neoplasms Hereditary cancer-predisposing syndrome Li-Fraumeni-like syndrome Adenocarcinoma Li-Fraumeni syndrome Neoplasm |
| Reversed |
1 |
| HGVS |
NC_000017.10:g.7577548C>A; NC_000017.10:g.7577548C>G; NC_000017.10:g.7577548C>T |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) HGMD |
| CLNACC |
RCV000013142.22, RCV000161025.2, RCV000417593.1, RCV000418673.1, RCV000419737.1, RCV000423577.1, RCV000424262.1, RCV000425471.1, RCV000426090.1, RCV000428895.1, RCV000430002.1, RCV000434535.1, RCV000436186.1, RCV000436330.1, RCV000440197.1, RCV000440886.1, RCV000441334.1, RCV000443435.1, RCV000492412.1, RCV000418277.1, RCV000419444.1, RCV000420527.1, RCV000424643.1, RCV000425790.1, RCV000426804.1, RCV000429713.1, RCV000430767.1, RCV000431462.1, RCV000432081.1, RCV000436041.1, RCV000437043.1, RCV000439119.1, RCV000441708.1, RCV000444043.1, RCV000444128.1, RCV000013162.20, RCV000130147.6, RCV000144669.1, RCV000148909.1, RCV000154014.4, RCV000226657.2, RCV000417419.1, RCV000419767.1, RCV000420452.1, RCV000421457.1, RCV000425581.1, RCV000426307.1, RCV000426990.1, RCV000428113.1, RCV000430925.1, RCV000432120.1, RCV000432898.1, RCV000436979.1, RCV000437643.1, RCV000438107.1, RCV000438801.1, RCV000442506.1, RCV000442529.1, |
]
