Rs28934578

rs28934578, also known as 721G>A, R175H and Arg175His, is a SNP in the p53 TP53 tumor suppressor gene.

Other variations in this gene are associated with a associated with predisposition to cancer in the form of Li-Fraumeni syndrome.

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.

Note: We have noticed a statistically unlikely increase in the number of customers of one DNA testing company who's genotype for this SNP is being reported as heterozygous. This is likely a technical error (the customers are actually likely to be carrying the normal, unmutated genotype for this SNP). Anyone who receives a report indicating they carry a mutation at this SNP should seek to have a clinically validated test carried out if they have either a significant family history of cancer or if they have any concerns about this.