ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His)

gnomAD frequency: 0.00002  dbSNP: rs80357341
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000048656 SCV000076669 likely benign Hereditary breast ovarian cancer syndrome 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130538 SCV000185407 likely benign Hereditary cancer-predisposing syndrome 2018-11-19 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 RCV000112396 SCV000220786 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2014-10-13 criteria provided, single submitter literature only
GeneDx RCV000442424 SCV000520101 likely benign not specified 2015-10-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000130538 SCV000909012 likely benign Hereditary cancer-predisposing syndrome 2018-04-02 criteria provided, single submitter clinical testing
Mendelics RCV000112396 SCV001140509 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477452 SCV004219423 likely benign not provided 2023-06-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003894900 SCV004709184 likely benign BRCA1-related condition 2023-06-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breast Cancer Information Core (BIC) (BRCA1) RCV000112396 SCV000145177 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2007-04-10 no assertion criteria provided clinical testing

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