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rs28934573

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7 pathogenic/causal mutation for Li-Fraumeni syndrome
(G;G) 0
Make rs28934573(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7674241
GeneTP53
is asnp
is mentioned by
dbSNPrs28934573
ebirs28934573
HLIrs28934573
Exacrs28934573
Varsomers28934573
Maprs28934573
PheGenIrs28934573
hapmaprs28934573
1000 genomesrs28934573
hgdprs28934573
ensemblrs28934573
gopubmedrs28934573
geneviewrs28934573
scholarrs28934573
googlers28934573
pharmgkbrs28934573
gwascentralrs28934573
openSNPrs28934573
23andMers28934573
23andMe allrs28934573
SNP Nexus

SNPshotrs28934573
SNPdbers28934573
MSV3drs28934573
GWAS Ctlgrs28934573
Max Magnitude7

rs28934573, also known as Ser241Phe or S241F, is a SNP in the p53 TP53 tumor suppressor gene.

The rare rs28934573(T) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 1565143]

This mutation is marked pathogenic (causal) in ClinVar; see also OMIM 191170.0013

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]

ser241-to-phe (S241F)

OMIM191170
DescHEPATOBLASTOMA
Variant0013
Relatedalso
Neighborrs28934572
Distance9
Neighborrs28934578
Distance847


ClinVar
Risk rs28934573(G,T;G,T)
Alt rs28934573(G,T;G,T)
Reference rs28934573(C;C)
Significance Pathogenic
Disease Hepatoblastoma Osteosarcoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not provided
Variation info
Gene TP53
CLNDBN Hepatoblastoma Osteosarcoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not provided
Reversed 1
HGVS NC_000017.10:g.7577559G>A; NC_000017.10:g.7577559G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013153.22, RCV000013154.20, RCV000130168.2, RCV000154419.1, RCV000236210.1,