ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5550G>C (p.Leu1850=)

gnomAD frequency: 0.00001  dbSNP: rs786201502
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Total submissions: 10
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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) RCV000495434 SCV000578322 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 RCV000163767 SCV000214348 likely benign Hereditary cancer-predisposing syndrome 2015-07-02 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 RCV000470941 SCV000560268 likely benign Hereditary breast ovarian cancer syndrome 2024-01-21 criteria provided, single submitter clinical testing
Counsyl RCV000495434 SCV000785189 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2017-05-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163767 SCV000911120 likely benign Hereditary cancer-predisposing syndrome 2017-11-16 criteria provided, single submitter clinical testing
GeneDx RCV001534248 SCV001751155 benign not provided 2015-07-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30209399)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001731411 SCV001983630 likely benign not specified 2021-09-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001534248 SCV002046383 likely benign not provided 2023-07-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163767 SCV002537871 likely benign Hereditary cancer-predisposing syndrome 2021-12-17 criteria provided, single submitter curation
Brotman Baty Institute, University of Washington RCV000495434 SCV001242133 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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