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rs28934875

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(C;G) 7 pathogenic/causal mutation for Li-Fraumeni syndrome
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position7675200
GeneTP53
is asnp
is mentioned by
dbSNPrs28934875
ebirs28934875
HLIrs28934875
Exacrs28934875
Varsomers28934875
Maprs28934875
PheGenIrs28934875
hapmaprs28934875
1000 genomesrs28934875
hgdprs28934875
ensemblrs28934875
gopubmedrs28934875
geneviewrs28934875
scholarrs28934875
googlers28934875
pharmgkbrs28934875
gwascentralrs28934875
openSNPrs28934875
23andMers28934875
23andMe allrs28934875
SNP Nexus

SNPshotrs28934875
SNPdbers28934875
MSV3drs28934875
GWAS Ctlgrs28934875
Max Magnitude7

rs28934875, also known as Ala138Pro or A138P, is a SNP in the p53 TP53 tumor suppressor gene.

The rare rs28934875(C) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 9569035OA-icon.png]

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 1
Variant0032
Relatedalso
Neighborrs28934874
Distance39
Neighborrs28934873
Distance14


ClinVar
Risk rs28934875(C;C)
Alt rs28934875(C;C)
Reference rs28934875(G;G)
Significance Pathogenic
Disease Li-Fraumeni syndrome 1
Variation info
Gene TP53
CLNDBN Li-Fraumeni syndrome 1
Reversed 1
HGVS NC_000017.10:g.7578518C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013175.23,