ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1827T>C (p.Asn609=)

gnomAD frequency: 0.00001  dbSNP: rs757657445
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Total submissions: 6
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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) RCV000495257 SCV000578238 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 RCV001013335 SCV001173911 likely benign Hereditary cancer-predisposing syndrome 2019-08-18 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 RCV001013335 SCV001358275 likely benign Hereditary cancer-predisposing syndrome 2018-11-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193690 SCV001362702 likely benign not specified 2019-08-27 criteria provided, single submitter clinical testing
Invitae RCV001435028 SCV001637846 likely benign Hereditary breast ovarian cancer syndrome 2021-03-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001013335 SCV002538054 likely benign Hereditary cancer-predisposing syndrome 2021-07-21 criteria provided, single submitter curation

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