Rs28934573

rs28934573, also known as Ser241Phe or S241F, is a SNP in the p53 TP53 tumor suppressor gene.

The rare rs28934573(T) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.

This mutation is marked pathogenic (causal) in ClinVar; see also OMIM 191170.0013

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.

ser241-to-phe (S241F)