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rs28934578

From SNPedia

Li Fraumeni (but see note below)
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 8 info@snpedia.com would like to hear from you
(A;G) 4 Li-Fraumeni syndrome?? (an inherited cancer predisposition - but see note below)
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position7675088
GeneTP53
is asnp
is mentioned by
dbSNPrs28934578
ebirs28934578
HLIrs28934578
Exacrs28934578
Varsomers28934578
Maprs28934578
PheGenIrs28934578
hapmaprs28934578
1000 genomesrs28934578
hgdprs28934578
ensemblrs28934578
gopubmedrs28934578
geneviewrs28934578
scholarrs28934578
googlers28934578
pharmgkbrs28934578
gwascentralrs28934578
openSNPrs28934578
23andMers28934578
23andMe allrs28934578
SNP Nexus

SNPshotrs28934578
SNPdbers28934578
MSV3drs28934578
GWAS Ctlgrs28934578
Max Magnitude8

rs28934578, also known as 721G>A, R175H and Arg175His, is a SNP in the p53 TP53 tumor suppressor gene.

Other variations in this gene are associated with a associated with predisposition to cancer in the form of Li-Fraumeni syndrome .

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]

Note: We have noticed a statistically unlikely increase in the number of customers of one DNA testing company who's genotype for this SNP is being reported as heterozygous. This is likely a technical error (the customers are actually likely to be carrying the normal, unmutated genotype for this SNP). Anyone who receives a report indicating they carry a mutation at this SNP should seek to have a clinically validated test carried out if they have either a significant family history of cancer or if they have any concerns about this.

OMIM191170
DescLI-FRAUMENI SYNDROME 1
Variant0030
Relatedalso
Neighborrs28934573
Distance847
Neighborrs28934874
Distance73


ClinVar
Risk rs28934578(A,T;A,T)
Alt rs28934578(A,T;A,T)
Reference rs28934578(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations Li-Fraumeni syndrome 1 Li-Fraumeni syndrome not provided Malignant tumor of esophagus
Variation info
Gene TP53
CLNDBN Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations Li-Fraumeni syndrome 1 Li-Fraumeni syndrome not provided Malignant tumor of esophagus
Reversed 1
HGVS NC_000017.10:g.7578406C>A; NC_000017.10:g.7578406C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000161065.1, RCV000218929.1, RCV000013173.20, RCV000131301.4, RCV000204931.2, RCV000213054.1, RCV000239398.1,