ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5430G>A (p.Val1810=)

gnomAD frequency: 0.00001  dbSNP: rs786201582
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
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495210 SCV000578035 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 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/).
Ambry Genetics RCV000163918 SCV000214513 likely benign Hereditary cancer-predisposing syndrome 2014-10-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000544949 SCV000636041 likely benign Hereditary breast ovarian cancer syndrome 2024-01-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163918 SCV000903564 likely benign Hereditary cancer-predisposing syndrome 2018-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001538813 SCV001756515 likely benign not provided 2019-02-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30209399)
Brotman Baty Institute, University of Washington RCV000495210 SCV001238385 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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.