ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1866G>A (p.Ala622=)

gnomAD frequency: 0.00001  dbSNP: rs1800064
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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) RCV000495392 SCV000578333 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 RCV000159873 SCV000209933 benign not specified 2014-09-15 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.
Ambry Genetics RCV000167406 SCV000218261 likely benign Hereditary cancer-predisposing syndrome 2014-12-17 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.
Eurofins Ntd Llc (ga) RCV000724275 SCV000224995 uncertain significance not provided 2014-09-09 criteria provided, single submitter clinical testing
Invitae RCV001086782 SCV000253496 likely benign Hereditary breast ovarian cancer syndrome 2024-01-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000167406 SCV000682992 likely benign Hereditary cancer-predisposing syndrome 2016-08-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000724275 SCV000888854 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000159873 SCV000916762 likely benign not specified 2020-12-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000167406 SCV002538058 likely benign Hereditary cancer-predisposing syndrome 2021-11-22 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000495392 SCV004016782 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing

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