Have questions? Visit https://www.reddit.com/r/SNPedia

rs11540652

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 pathogenic/causal mutation for Li-Fraumeni syndrome
(C;C) 0
(G;G) 0 common in clinvar


Make rs11540652(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position7674220
GeneTP53
is asnp
is mentioned by
dbSNPrs11540652
ebirs11540652
HLIrs11540652
Exacrs11540652
Varsomers11540652
Maprs11540652
PheGenIrs11540652
hapmaprs11540652
1000 genomesrs11540652
hgdprs11540652
ensemblrs11540652
gopubmedrs11540652
geneviewrs11540652
scholarrs11540652
googlers11540652
pharmgkbrs11540652
gwascentralrs11540652
openSNPrs11540652
23andMers11540652
23andMe allrs11540652
SNP Nexus

SNPshotrs11540652
SNPdbers11540652
MSV3drs11540652
GWAS Ctlgrs11540652
Max Magnitude6

rs11540652, also known as Arg248Gln or R248Q, is a SNP in the p53 TP53 tumor suppressor gene.

The rare rs11540652(A) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 1683921]

This 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 23788249OA-icon.png]

? (A;A) (A;G) (G;G) 28
OMIM191170
DescLI-FRAUMENI SYNDROME 1
Variant0010
Relatedalso
Neighborrs1042522
Distance1934
Neighborrs28934571
Distance4
Neighborrs28934575
Distance10


ClinVar
Risk rs11540652(A,C,T;A,C,T)
Alt rs11540652(A,C,T;A,C,T)
Reference rs11540652(G;G)
Significance Other
Disease Tumor susceptibility linked to germline BAP1 mutations Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Sarcoma Li-Fraumeni syndrome 2 not provided
Variation info
Gene TP53
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Sarcoma Li-Fraumeni syndrome 2 not provided
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
CLNACC RCV000219834.1, RCV000229442.1, RCV000013150.22, RCV000115736.6, RCV000148913.1, RCV000179773.1, RCV000197114.2, RCV000235221.1,



[PMID 18798306OA-icon.png] 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 21264207OA-icon.png] Detection of somatic mutations by high-resolution DNA melting (HRM) analysis in multiple cancers.