ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1401G>A (p.Lys467=)

gnomAD frequency: 0.00001  dbSNP: rs786201323
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
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) RCV000495630 SCV000578328 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 RCV000163383 SCV000213923 likely benign Hereditary cancer-predisposing syndrome 2015-06-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV001704163 SCV000518718 likely benign not provided 2020-01-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25337278)
Color Diagnostics, LLC DBA Color Health RCV000163383 SCV000682959 likely benign Hereditary cancer-predisposing syndrome 2016-07-25 criteria provided, single submitter clinical testing
Counsyl RCV000495630 SCV000785443 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2017-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872685 SCV001014537 likely benign Hereditary breast ovarian cancer syndrome 2024-11-28 criteria provided, single submitter clinical testing
Mendelics RCV000495630 SCV001140605 benign Breast-ovarian cancer, familial, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307419 SCV002600367 likely benign not specified 2024-09-20 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000872685 SCV004014880 likely benign Hereditary breast ovarian cancer syndrome 2023-06-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001704163 SCV004222563 likely benign not provided 2023-02-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000495630 SCV004818335 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-11-20 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005359423 SCV005914149 likely benign Fanconi anemia, complementation group S 2023-08-22 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.