rs11540652
A SNP in the TP53 gene on chromosome 17. Its most notable genotype is C;T: Li-Fraumeni Syndrome (predicted)
- Gene
- TP53
- Location
- Chr 177,674,220 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadLi-Fraumeni Syndrome (predicted)
- G;GNot ratedNo summary available.
- C;GBadLi-Fraumeni Syndrome (predicted)
- C;CGoodcommon in clinvar
- A;CBadLi-Fraumeni Syndrome (predicted)
SNPedia records rs11540652 on the minus strand: (A;G), (C;C), (C;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageC;T 0% G;G 0% C;G 0% C;C 100% A;C 0%
- European ancestry (Utah)C;T 0% G;G 0% C;G 0% C;C 100% A;C 0%
- Han Chinese (Beijing)C;T 0% G;G 0% C;G 0% C;C 100% A;C 0%
- Japanese (Tokyo)C;T 0% G;G 0% C;G 0% C;C 100% A;C 0%
- Yoruba (Nigeria)C;T 0% G;G 0% C;G 0% C;C 100% A;C 0%
Related
Conditions, medicines and genes
Other TP53 SNPs
- rs28934578T;Tinfo@snpedia.com would like to hear from youVery important
- rs11575997C;TLi-Fraumeni Syndrome (predicted)Very important
- rs28934573C;GLi-Fraumeni Syndrome (predicted)Very important
- rs28934574C;GLi-Fraumeni Syndrome (predicted)Very important
- rs28934575C;TLi-Fraumeni Syndrome (predicted)Very important
- rs28934576C;TLi-Fraumeni Syndrome (predicted)Very important
- rs28934577A;CLi-Fraumeni Syndrome (predicted)Very important
- rs28934873A;GLi-Fraumeni Syndrome (predicted)Very important
Notes
From SNPedia
Show notes, about 120 words
rs11540652, also known as c.743G>A, Arg248Gln or R248Q, is a SNP in the p53 TP53 tumor suppressor gene. Note that c.743G>C (p.Arg248Pro or R248P) and c.743G>T (p.Arg248Leu or R248L) are also known variants. The rare rs11540652(A) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1; the other two variant alleles are considered likely to be pathogenic as well by ClinVar submitters, and may be even rarer. The rs11540652(A) mutation is consistently denoted as pathogenic (causal) in ClinVar; see also OMIM 191170.0010. 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 rs11540652 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.