ClinVar

Description

The RAD51C c.93delG; p.Phe32fs variant (rs730881942) is reported in the literature in individuals with breast and/or ovarian cancer, prostate cancer, soft tissue sarcoma, or hematologic cancer (Pelttari 2011, Pritchard 2016, Schrader 2016, Susswein 2016). This variant is reported as pathogenic by multiple laboratories in ClinVar (Variation ID: 182847). It is found in the general population with an overall allele frequency of 0.005% (13/282860 alleles) in the Genome Aggregation Database. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. REFERENCES Pelttari LM et al. RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet. 2011 Aug 15;20(16):3278-88. Pritchard CC et al. Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. N Engl J Med. 2016 Aug 4;375(5):443-53. Schrader KA et al. Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. JAMA Oncol. 2016 Jan;2(1):104-11. Susswein LR et al. Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet Med. 2016 Aug;18(8):823-32.