ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.977G>A (p.Ser326Asn) (rs587782691)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132125 SCV000187193 uncertain significance Hereditary cancer-predisposing syndrome 2014-04-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Integrated Genetics/Laboratory Corporation of America RCV000588060 SCV000695272 uncertain significance not provided 2016-11-04 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.977G>A (p.Ser326Asn) variant causes a missense change involving a non-conserved nucleotide with 4/5 in silico tools predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications, although multiple databases/clinical diagnostic laboratories have cited the variant with a classification of "uncertain significance." Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588060 SCV000889190 uncertain significance not provided 2018-02-27 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.