ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1866G>A (p.Ala622=) (rs1800064)

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Total submissions: 8
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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 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724275 SCV000224995 uncertain significance not provided 2014-09-09 criteria provided, single submitter clinical testing
Invitae RCV001086782 SCV000253496 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-19 criteria provided, single submitter clinical testing
Color Health, Inc 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 2018-03-26 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

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