Rs11540652

rs11540652, also known as Arg248Gln or R248Q, is a SNP in the p53 TP53 tumor suppressor gene.

The rare rs11540652(A) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.

This 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.