| Geno
|
Mag
|
Summary
|
| (A;G)
|
7
|
Li-Fraumeni Syndrome (predicted)
|
| (C;C)
|
0
|
|
| (C;G)
|
7
|
Li-Fraumeni Syndrome (predicted)
|
| (G;G)
|
0
|
common in clinvar
|
| (G;T)
|
7
|
Li-Fraumeni Syndrome (predicted)
|
rs11540652, also known as c.743G>A, Arg248Gln or R248Q, is a SNP in the p53 TP53 tumor suppressor gene. Note that c.743G>C (p.Arg248Pro or R248P) and c.743G>T (p.Arg248Leu or R248L) are also known variants.
The rare rs11540652(A) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1; the other two variant alleles are considered likely to be pathogenic as well by ClinVar submitters, and may be even rarer.[PMID 1683921]
The rs11540652(A) mutation is consistently denoted as pathogenic (causal) in ClinVar; see also OMIM 191170.0010.
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
|
rs11540652(A;A) Rs11540652(C;C) rs11540652(T;T) |
| Alt
|
rs11540652(A;A) Rs11540652(C;C) rs11540652(T;T) |
| Reference
|
Rs11540652(G;G) |
| Significance |
Other |
| Disease |
Hereditary cancer-predisposing syndrome Uterine Carcinosarcoma Transitional cell carcinoma of the bladder Neoplasm of brain Squamous cell carcinoma of lung Brainstem glioma Medulloblastoma Myelodysplastic syndrome Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Adenocarcinoma of lung Acute myeloid leukemia Chronic lymphocytic leukemia Ovarian Serous Cystadenocarcinoma Adenocarcinoma of stomach Small cell lung cancer Squamous cell carcinoma of the skin Hepatocellular carcinoma Neoplasm of breast Oesophageal carcinoma Multiple myeloma Colorectal Neoplasms Glioblastoma Malignant melanoma of skin Adenocarcinoma of prostate Malignant neoplasm of body of uterus Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Sarcoma Li-Fraumeni syndrome 2 not provided Neoplasm |
| Variation | info |
|---|
| Gene |
TP53 |
| CLNDBN |
Hereditary cancer-predisposing syndrome Uterine Carcinosarcoma Transitional cell carcinoma of the bladder Neoplasm of brain Squamous cell carcinoma of lung Brainstem glioma Medulloblastoma Myelodysplastic syndrome Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Adenocarcinoma of lung Acute myeloid leukemia Chronic lymphocytic leukemia Ovarian Serous Cystadenocarcinoma Adenocarcinoma of stomach Small cell lung cancer Squamous cell carcinoma of the skin Hepatocellular carcinoma Neoplasm of breast Oesophageal carcinoma Multiple myeloma Colorectal Neoplasms Glioblastoma Malignant melanoma of skin Adenocarcinoma of prostate Malignant neoplasm of body of uterus Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Sarcoma Li-Fraumeni syndrome 2 not provided Neoplasm |
| Reversed |
1 |
| HGVS |
NC_000017.10:g.7577538C>A; NC_000017.10:g.7577538C>G; NC_000017.10:g.7577538C>T |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000219834.2, RCV000417894.1, RCV000418531.1, RCV000422303.1, RCV000422821.1, RCV000423159.1, RCV000423468.1, RCV000424119.1, RCV000424394.1, RCV000427307.1, RCV000428586.1, RCV000429221.1, RCV000430044.1, RCV000433237.1, RCV000433865.1, RCV000434177.1, RCV000435101.1, RCV000435726.1, RCV000437940.1, RCV000439516.1, RCV000439901.1, RCV000440686.1, RCV000443630.1, RCV000443712.1, RCV000445145.1, RCV000445266.1, RCV000229442.2, RCV000418894.1, RCV000419610.1, RCV000420292.1, RCV000420936.1, RCV000421633.1, RCV000424795.1, RCV000425414.1, RCV000425773.1, RCV000426089.1, RCV000430314.1, RCV000430964.1, RCV000431663.1, RCV000432304.1, RCV000432999.1, RCV000434831.1, RCV000435488.1, RCV000436124.1, RCV000436850.1, RCV000438849.1, RCV000441018.1, RCV000441674.1, RCV000443867.1, RCV000444130.1, RCV000444805.1, RCV000445077.1, RCV000013150.22, RCV000115736.8, RCV000148913.1, RCV000179773.1, RCV000197114.3, RCV000235221.2, RCV000417916.1, RCV000419135.1, RCV000420303.1, RCV000420727.1, RCV000421194.1, RCV000421893.1, RCV000424869.1, RCV000426233.1, RCV000426359.1, RCV000426606.1, RCV000427709.1, RCV000428591.1, RCV000430513.1, RCV000432587.1, RCV000432778.1, RCV000433424.1, RCV000435533.1, RCV000437291.1, RCV000437518.1, RCV000437935.1, RCV000438410.1, RCV000439963.1, RCV000441226.1, RCV000444656.1, RCV000445235.1, RCV000445244.1, |
[PMID 18798306] Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population.
[PMID 21264207] Detection of somatic mutations by high-resolution DNA melting (HRM) analysis in multiple cancers.
]
