ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8428A>G (p.Ser2810Gly) (rs80359089)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129757 SCV000184564 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113930 SCV000147361 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000129757 SCV000911248 likely benign Hereditary cancer-predisposing syndrome 2017-02-13 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000484281 SCV000592192 uncertain significance not specified 2016-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000657058 SCV000567893 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8428A>G at the cDNA level, p.Ser2810Gly (S2810G) at the protein level, and results in the change of a Serine to a Glycine (AGT>GGT). Using alternate nomenclature, this variant would be defined as BRCA2 8656A>G. This variant has not, to our knowledge, been published in the literature as a germline variant; however it has been reported as a somatic variant in a lung tumor (Hovelson 2015). BRCA2 Ser2810Gly was not observed in large population cohorts (Lek 2016). BRCA2 Ser2810Gly 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 information, it is unclear whether BRCA2 Ser2810Gly is pathogenic or benign. We consider it to be a variant of uncertain significance.

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.