ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3210A>G (p.Ala1070=)

dbSNP: rs876659104
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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) RCV000495014 SCV000578673 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 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 RCV000215235 SCV000275167 likely benign Hereditary cancer-predisposing syndrome 2015-04-09 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.
Color Diagnostics, LLC DBA Color Health RCV000215235 SCV000914019 likely benign Hereditary cancer-predisposing syndrome 2018-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001478902 SCV001683179 likely benign Hereditary breast ovarian cancer syndrome 2024-04-25 criteria provided, single submitter clinical testing
GeneDx RCV001560039 SCV001782371 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000495014 SCV004845125 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-06-28 criteria provided, single submitter clinical testing

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