ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10061del (p.Ser3354fs)

dbSNP: rs2073055112
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193360 SCV001362123 uncertain significance not specified 2019-12-17 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.10061delC (p.Ser3354LeufsX29) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant is located downstream of a well-known polymorphism c.9976A>T (p.Lys3326X), that results in a truncated protein, suggesting that the region of the BRCA2 gene beyond codon 3326 is not crucial for proper function. The variant was absent in 251146 control chromosomes (gnomAD). To our knowledge, no occurrence of c.10061delC in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002560164 SCV002961418 likely benign Hereditary breast ovarian cancer syndrome 2022-09-26 criteria provided, single submitter clinical testing
Laboratory for Genotyping Development, RIKEN RCV003163488 SCV002758341 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.