|Li Fraumeni (but see note below)|
|(A;A)||firstname.lastname@example.org would like to hear from you|
|(A;G)||4||Li-Fraumeni syndrome?? (an inherited cancer predisposition - but see note below)|
|(G;G)||0||common in clinvar|
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.[PMID 23788249]
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.
|Disease||Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome not provided Malignant tumor of esophagus|
|CLNDBN||Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome not provided Malignant tumor of esophagus|
|CLNSRC||UniProtKB (protein) OMIM Allelic Variant|
|CLNACC||RCV000161065.1, RCV000013173.21, RCV000131301.5, RCV000204931.2, RCV000213054.2, RCV000239398.1,|