ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6443C>A (p.Ser2148Tyr) (rs80358880)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130268 SCV000185112 likely benign Hereditary cancer-predisposing syndrome 2018-02-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000077375 SCV000146852 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000130268 SCV000688980 likely benign Hereditary cancer-predisposing syndrome 2015-08-04 criteria provided, single submitter clinical testing
Counsyl RCV000077375 SCV000488038 uncertain significance Breast-ovarian cancer, familial 2 2015-12-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000425082 SCV000592050 uncertain significance not specified 2014-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000425082 SCV000522034 likely benign not specified 2018-01-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000044949 SCV000072962 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-08-07 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 2148 of the BRCA2 protein (p.Ser2148Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tyrosine. This variant is present in population databases (rs80358880, ExAC 0.003%). This variant has been reported in individuals affected with breast and/or ovarian cancer (PMID: 16284991, 17262179, 16905680). ClinVar contains an entry for this variant (Variation ID: 52096). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077375 SCV000296667 uncertain significance Breast-ovarian cancer, familial 2 2016-05-13 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077375 SCV000109172 benign Breast-ovarian cancer, familial 2 2012-04-27 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.