ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9837A>G (p.Leu3279=) (rs730881598)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163339 SCV000213873 likely benign Hereditary cancer-predisposing syndrome 2015-01-14 criteria provided, single submitter clinical testing
Color RCV000163339 SCV000906826 likely benign Hereditary cancer-predisposing syndrome 2017-11-30 criteria provided, single submitter clinical testing
Counsyl RCV000411196 SCV000489416 likely benign Breast-ovarian cancer, familial 2 2016-10-03 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000411196 SCV000578523 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 RCV000160258 SCV000210693 benign not specified 2014-06-20 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 RCV000586788 SCV000695274 likely benign not provided 2017-02-13 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9837A>G (p.Leu3279Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide, which 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts that this variant may create an ESE binding site for SC35. However, these predictions have yet to be confirmed by functional studies. The variant of interest has not been observed in controls (ExAC, 1000 Gs, or ESP), nor has it been reported, to our knowledge, in affected individuals via publications. However, an internal LCA sample reports the variant to co-occur with a likely pathogenic BRCA1 variant, c.3964A>T (p.Lys1322X). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as "Likely Benign."
Invitae RCV000477078 SCV000560426 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000160258 SCV000600878 likely benign not specified 2016-10-10 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.