rs28934576

A SNP in the TP53 gene on chromosome 17. Its most notable genotype is C;T: Li-Fraumeni Syndrome (predicted)

Gene
TP53
Location
Chr 177,673,802 (GRCh38)
Highest magnitude
7.0Very important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TBadLi-Fraumeni SyndromeVery important · 5.0
  2. C;TMost notableBadLi-Fraumeni Syndrome (predicted)Very important · 7.0
  3. C;CGoodcommon in clinvarTypical · 0.0
  4. A;CBadLi-Fraumeni Syndrome (predicted)Very important · 7.0

SNPedia records rs28934576 on the minus strand: (A;A), (A;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other TP53 SNPs

All TP53 SNPs

Notes

From SNPedia

Show notes, about 140 words

rs28934576, also known as Arg273His or R273H, is a SNP in the p53 TP53 tumor suppressor gene. The minor allele is denoted as pathogenic (causal) in ClinVar. The rare rs28934576(A) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1. Germline p53 Mutation in a Case of Li-Fraumeni Syndrome Presenting Gastric Cancer. A germline missense mutation CGT (Arg, wild type) to CAT (His) substitution at codon 273 of the p53 gene, causing Li-Fraumeni Syndrome with a gastric cancer in a Japanese. PCR direct sequencing analysis revealed a germline missense mutation in exon 8, causing a substitution of CAT (His) for CGT (Arg). See also OMIM 191170.20 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.

Source and license

Adapted from rs28934576 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.