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rs28934873

From SNPedia

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


Make rs28934873(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position7675214
GeneTP53
is asnp
is mentioned by
dbSNPrs28934873
ebirs28934873
HLIrs28934873
Exacrs28934873
Varsomers28934873
Maprs28934873
PheGenIrs28934873
hapmaprs28934873
1000 genomesrs28934873
hgdprs28934873
ensemblrs28934873
gopubmedrs28934873
geneviewrs28934873
scholarrs28934873
googlers28934873
pharmgkbrs28934873
gwascentralrs28934873
openSNPrs28934873
23andMers28934873
23andMe allrs28934873
SNP Nexus

SNPshotrs28934873
SNPdbers28934873
MSV3drs28934873
GWAS Ctlgrs28934873
Max Magnitude6

rs28934573, also known as Met133Thr or M133T, is a SNP in the p53 TP53 tumor suppressor gene.

The rare rs28934573(C) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 1933902]

This allele is considered pathogenic (causal) in ClinVar; see also OMIM 191170.0011.

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
Variant0011
Relatedalso
Neighborrs28934875
Distance14
Neighborrs1042522
Distance940


ClinVar
Risk rs28934873(C;C)
Alt rs28934873(C;C)
Reference rs28934873(T;T)
Significance Pathogenic
Disease Li-Fraumeni syndrome 1
Variation info
Gene TP53
CLNDBN Li-Fraumeni syndrome 1
Reversed 1
HGVS NC_000017.10:g.7578532A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013151.21,