ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3111A>G (p.Gln1037=) (rs786202967)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166053 SCV000216814 likely benign Hereditary cancer-predisposing syndrome 2014-09-22 criteria provided, single submitter clinical testing
Color RCV000166053 SCV000683527 likely benign Hereditary cancer-predisposing syndrome 2016-08-01 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494838 SCV000578615 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/).
GeneDx RCV000612892 SCV000730748 likely benign not specified 2017-04-07 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.
Integrated Genetics/Laboratory Corporation of America RCV000588155 SCV000694668 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.3111A>G (p.Gln1037Gln) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may add one binding site for splicing enhancers. However, these predictions have yet to be confirmed by functional studies. The variant of interest has not been found in a large, broad control population, ExAC in 120284 control chromosomes and it was found in gnomAD in 1/214174 control chromosomes at a frequency of 0.0000047, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant was identified in pts with BrC without strong evidence for causality (Trujillano_BRCA1&2_JMD_2014). One clinical diagnostic laboratory and one reputable database classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000559546 SCV000635267 likely benign Hereditary breast and ovarian cancer syndrome 2017-03-01 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.