ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10089A>G (p.Ile3363Met) (rs80358390)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000588809 SCV000071722 likely benign not provided 2019-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131377 SCV000186353 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient evidence
GeneDx RCV000425048 SCV000516584 likely benign not specified 2017-06-15 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000043709 SCV000592310 uncertain significance Hereditary breast and ovarian cancer syndrome criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000425048 SCV000600452 uncertain significance not specified 2016-08-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588809 SCV000694491 uncertain significance not provided 2016-06-27 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.10089A>G (p.Ile3363Met) variant involves the alteration of a non-conserved nucleotide. 3/3 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 11/121126 control chromosomes at a frequency of 0.0000908, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been reported in one patient with epithelial cancer in a published study without strong evidence for pathogenicity (Cunningham_2014). It has also been reported in individuals undergoing BRCA1/2 testing by clinical testing labs and databases. Multiple clinical labs/databases have classified this variant as uncertain significance. Because of the absence of sufficient clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
GeneKor MSA RCV000131377 SCV000821930 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Color RCV000131377 SCV000910907 likely benign Hereditary cancer-predisposing syndrome 2016-04-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112836 SCV000145748 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Centre for Molecular Diagnostics & Cell Biology,Rajiv Gandhi Cancer Institute & Research Center RCV000112836 SCV000485083 uncertain significance Breast-ovarian cancer, familial 2 2016-12-28 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.