ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1710A>G (p.Pro570=)

dbSNP: rs876659901
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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) RCV000495282 SCV000578396 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 RCV000219682 SCV000276837 likely benign Hereditary cancer-predisposing syndrome 2019-06-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV000440170 SCV000516717 likely benign not specified 2016-07-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000541955 SCV000635810 likely benign Hereditary breast ovarian cancer syndrome 2024-07-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000219682 SCV001359183 likely benign Hereditary cancer-predisposing syndrome 2019-08-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000495282 SCV004818294 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-08-15 criteria provided, single submitter clinical testing

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