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rs28934575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 5 pathogenic/causal mutation for Li-Fraumeni-like syndrome
(C;C) 0
(G;G) 0 common in clinvar


Make rs28934575(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position7674230
GeneTP53
is asnp
is mentioned by
dbSNPrs28934575
ebirs28934575
HLIrs28934575
Exacrs28934575
Varsomers28934575
Maprs28934575
PheGenIrs28934575
hapmaprs28934575
1000 genomesrs28934575
hgdprs28934575
ensemblrs28934575
gopubmedrs28934575
geneviewrs28934575
scholarrs28934575
googlers28934575
pharmgkbrs28934575
gwascentralrs28934575
openSNPrs28934575
23andMers28934575
23andMe allrs28934575
SNP Nexus

SNPshotrs28934575
SNPdbers28934575
MSV3drs28934575
GWAS Ctlgrs28934575
Max Magnitude5

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 23788249OA-icon.png]

OMIM191170
DescOSTEOSARCOMA
Variant0019
Relatedalso
Neighborrs11540652
Distance10
Neighborrs28934572
Distance2


ClinVar
Risk rs28934575(A,T;A,T)
Alt rs28934575(A,T;A,T)
Reference rs28934575(G;G)
Significance Pathogenic
Disease Li-Fraumeni syndrome 1 not provided Li-Fraumeni-like syndrome Hereditary cancer-predisposing syndrome Adenocarcinoma Li-Fraumeni syndrome
Variation info
Gene TP53
CLNDBN Li-Fraumeni syndrome 1 not provided Li-Fraumeni-like syndrome Hereditary cancer-predisposing syndrome Adenocarcinoma Li-Fraumeni syndrome
Reversed 1
HGVS NC_000017.10:g.7577548C>A; NC_000017.10:g.7577548C>T
CLNSRC OMIM Allelic Variant HGMD
CLNACC RCV000013142.22, RCV000161025.2, RCV000013162.20, RCV000130147.4, RCV000144669.1, RCV000148909.1, RCV000154014.3, RCV000226657.1,