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rs28934576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5 Li-Fraumeni Syndrome
(A;G) 5 pathogenic/causal mutation for Li-Fraumeni syndrome
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position7673802
GeneTP53
is asnp
is mentioned by
dbSNPrs28934576
ebirs28934576
HLIrs28934576
Exacrs28934576
Varsomers28934576
Maprs28934576
PheGenIrs28934576
hapmaprs28934576
1000 genomesrs28934576
hgdprs28934576
ensemblrs28934576
gopubmedrs28934576
geneviewrs28934576
scholarrs28934576
googlers28934576
pharmgkbrs28934576
gwascentralrs28934576
openSNPrs28934576
23andMers28934576
23andMe allrs28934576
SNP Nexus

SNPshotrs28934576
SNPdbers28934576
MSV3drs28934576
GWAS Ctlgrs28934576
GMAF0.0004591
Max Magnitude5

rs28934576, also known as Arg273His or R273H, is a SNP in the p53 TP53 tumor suppressor gene. The minor allele is denoted as pathogenic (causal) in ClinVar.

The rare rs28934576(A) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 1565144]

[PMID 10645809] Germline p53 Mutation in a Case of Li-Fraumeni Syndrome Presenting Gastric Cancer. A germline missense mutation CGT (Arg, wild type) to CAT (His) substitution at codon 273 of the p53 gene, causing Li-Fraumeni Syndrome with a gastric cancer in a Japanese. PCR direct sequencing analysis revealed a germline missense mutation in exon 8, causing a substitution of CAT (His) for CGT (Arg).

See also OMIM 191170.20

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]

OMIM191170
DescLI-FRAUMENI SYNDROME
Variant0020
Relatedalso
Neighborrs28934574
Distance26
Neighborrs28934577
Distance391


ClinVar
Risk rs28934576(A,C,T;A,C,T)
Alt rs28934576(A,C,T;A,C,T)
Reference rs28934576(G;G)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Li-Fraumeni syndrome 1 Thyroid cancer Hereditary cancer-predisposing syndrome
Variation info
Gene TP53
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Li-Fraumeni syndrome 1 Thyroid cancer, anaplastic Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.7577120C>G; NC_000017.10:g.7577120C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000222860.1, RCV000013163.21, RCV000013164.5, RCV000115738.4,