rs28934575

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

Gene
TP53
Location
Chr 177,674,230 (GRCh38)
Highest magnitude
7.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;TMost notableBadLi-Fraumeni Syndrome (predicted)Very important · 7.0
  2. G;GNot ratedNo summary available.Typical · 0.0
  3. C;CGoodcommon in clinvarTypical · 0.0
  4. A;CBadLi-Fraumeni Syndrome (predicted)Very important · 7.0

SNPedia records rs28934575 on the minus strand: (A;G), (C;C), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs28934575, also known as Gly245Ser or G245S, is a SNP in the p53 TP53 tumor suppressor gene. The rare rs28934575(A) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1. This mutation is consistently marked as either pathogenic (causal) or likely pathogenic in ClinVar; see also OMIM 191170.0019. 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 rs28934575 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.