ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2004G>A (p.Arg668=) (rs755049218)

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 RCV000163664 SCV000214235 likely benign Hereditary cancer-predisposing syndrome 2014-09-12 criteria provided, single submitter clinical testing
Color RCV000163664 SCV000688736 likely benign Hereditary cancer-predisposing syndrome 2017-09-08 criteria provided, single submitter clinical testing
Counsyl RCV000412104 SCV000487771 likely benign Breast-ovarian cancer, familial 2 2015-12-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000499647 SCV000591786 likely benign not specified 2017-01-18 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000412104 SCV000578937 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Integrated Genetics/Laboratory Corporation of America RCV000588304 SCV000694588 uncertain significance not provided 2016-03-31 criteria provided, single submitter clinical testing Variant summary: The variant BRCA2 c.2004G>A affects a non-conserved nucleotide, resulting in synonymous change. 5/5 programs in Alamut predict that this variant does not affect normal splicing while ESEfinder predicts a change for ESE sites. This variant was found in 2/119712 control chromosomes at a frequency of 0.0000167, which is lower than the maximal expected frequency of a pathogenic allele (0.0007503). This variant has not, to our knowledge, been reported in patients in literature, nor evaluated by functional studies. Although one diagnostic laboratory classifies it as likely benign, a database (UMD) classifies this variant as an unclassified variant. Taken together, this variant was classified as variant of uncertain significance-possibly benign.
Invitae RCV000230023 SCV000283179 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000499647 SCV000600495 likely benign not specified 2016-08-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588304 SCV000888997 likely benign not provided 2018-07-16 criteria provided, single submitter 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.