ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5214T>G (p.Thr1738=) (rs864622338)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000410890 SCV000578924 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/).
Invitae RCV000206402 SCV000260218 likely benign Hereditary breast and ovarian cancer syndrome 2015-08-26 criteria provided, single submitter clinical testing
Counsyl RCV000410890 SCV000489636 likely benign Breast-ovarian cancer, familial 2 2016-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000433049 SCV000531587 likely benign not specified 2016-09-02 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.

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.