ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1467G>A (p.Glu489=) (rs794726997)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
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) RCV000495779 SCV000578188 likely benign Breast-ovarian cancer, familial 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/).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000587715 SCV000224989 uncertain significance not provided 2014-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000855613 SCV000698867 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV000587715 SCV001079393 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011536 SCV001171869 likely benign Hereditary cancer-predisposing syndrome 2019-03-30 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.
Color Health, Inc RCV001011536 SCV001360029 likely benign Hereditary cancer-predisposing syndrome 2019-05-08 criteria provided, single submitter clinical testing
Invitae RCV001413562 SCV001615681 likely benign Hereditary breast and ovarian cancer syndrome 2020-07-13 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.