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rs28934577

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(A;T) 6 pathogenic/causal mutation for Li-Fraumeni syndrome
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position7674193
GeneTP53
is asnp
is mentioned by
dbSNPrs28934577
ebirs28934577
HLIrs28934577
Exacrs28934577
Varsomers28934577
Maprs28934577
PheGenIrs28934577
hapmaprs28934577
1000 genomesrs28934577
hgdprs28934577
ensemblrs28934577
gopubmedrs28934577
geneviewrs28934577
scholarrs28934577
googlers28934577
pharmgkbrs28934577
gwascentralrs28934577
openSNPrs28934577
23andMers28934577
23andMe allrs28934577
SNP Nexus

SNPshotrs28934577
SNPdbers28934577
MSV3drs28934577
GWAS Ctlgrs28934577
Max Magnitude6

rs28934577, also known as Leu257Gln or L257Q, is a SNP in the p53 TP53 tumor suppressor gene.

The rare rs28934577(A) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 8134127]

ClinVar annotates this as both pathogenic, and, "likely pathogenic"; see also OMIM 191170.0028

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
DescMULTIPLE MALIGNANCY SYNDROME
Variant0028
Relatedalso
Neighborrs28934576
Distance391
Neighborrs28934571
Distance23


ClinVar
Risk rs28934577(A,G;A,G)
Alt rs28934577(A,G;A,G)
Reference rs28934577(T;T)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Li-Fraumeni-like syndrome
Variation info
Gene TP53
CLNDBN Hereditary cancer-predisposing syndrome Li-Fraumeni-like syndrome
Reversed 1
HGVS NC_000017.10:g.7577511A>C; NC_000017.10:g.7577511A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000130981.2, RCV000013171.20,