Rs28934575

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.