ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7684T>C (p.Phe2562Leu) (rs80358995)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220943 SCV000274716 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000031696 SCV000147162 uncertain significance Breast-ovarian cancer, familial 2 2004-11-25 no assertion criteria provided clinical testing
Color RCV000220943 SCV000683899 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-20 criteria provided, single submitter clinical testing
Counsyl RCV000031696 SCV000786301 uncertain significance Breast-ovarian cancer, familial 2 2018-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000221024 SCV000279353 uncertain significance not provided 2018-09-05 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7684T>C at the cDNA level, p.Phe2562Leu (F2562L) at the protein level, and results in the change of a Phenylalanine to a Leucine (TTT>CTT). Using alternate nomenclature, this variant would be defined as BRCA2 7912T>C. This variant has been observed in a lymphoblast cell line derived from an individual with Fanconi Anemia who was also found to harbor a frameshift variant in BRCA2, but phase was unknown (Stoepker 2015). BRCA2 Phe2562Leu has also been observed in at least one family with breast and/or ovarian cancer (Azzollini 2016). This variant was demonstrated to result in reduced homology-direct repair activity when compared to wild type and was classified as pathogenic based on a multifactorial model (Guidugli 2018). This variant was not observed in large population cohorts (Lek 2016). BRCA2 Phe2562Leu is located in the DNA binding domain (Yang 2002). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA2 Phe2562Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Sharing Clinical Reports Project (SCRP) RCV000031696 SCV000054303 likely benign Breast-ovarian cancer, familial 2 2010-09-27 no assertion criteria provided clinical testing

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.