ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.964G>A (p.Ala322Thr)

dbSNP: rs80357252
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
Invitae RCV000049205 SCV000077218 likely benign Hereditary breast ovarian cancer syndrome 2023-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130323 SCV000185173 likely benign Hereditary cancer-predisposing syndrome 2017-09-01 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.
Counsyl RCV000077634 SCV000786609 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2018-06-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000130323 SCV000909395 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-06 criteria provided, single submitter clinical testing
GeneDx RCV001588880 SCV001826749 uncertain significance not provided 2019-09-26 criteria provided, single submitter clinical testing Observed in individuals with breast and/or ovarian cancer (Azzolini 2016); Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Also known as 1083G>A; This variant is associated with the following publications: (PMID: 27062684, 33087888, 31131967, 28726806, 16267036)
University of Washington Department of Laboratory Medicine, University of Washington RCV000130323 SCV003846264 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Sharing Clinical Reports Project (SCRP) RCV000077634 SCV000109437 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2010-09-15 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077634 SCV000143966 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided 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.