ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.996G>T (p.Arg332=)

gnomAD frequency: 0.00001  dbSNP: rs80356836
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111526 SCV000578422 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/).
GeneDx RCV000587592 SCV000515954 likely benign not provided 2018-08-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15876480)
Ambry Genetics RCV000575991 SCV000660979 likely benign Hereditary cancer-predisposing syndrome 2016-02-08 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 Diagnostics, LLC DBA Color Health RCV000575991 SCV000683382 likely benign Hereditary cancer-predisposing syndrome 2016-12-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000421881 SCV000699325 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000587592 SCV000806990 likely benign not provided 2017-03-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000421881 SCV000888962 benign not specified 2019-10-26 criteria provided, single submitter clinical testing
Invitae RCV001493049 SCV001697671 likely benign Hereditary breast ovarian cancer syndrome 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000111526 SCV004016802 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV001493049 SCV004228060 likely benign Hereditary breast ovarian cancer syndrome 2023-12-12 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111526 SCV000143977 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2003-05-23 no assertion criteria provided clinical testing

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