ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6030C>A (p.Val2010=)

dbSNP: rs786201328
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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) RCV000495465 SCV000579109 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 RCV000218381 SCV000273058 likely benign Hereditary cancer-predisposing syndrome 2015-01-13 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588522 SCV000694929 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000218381 SCV001339982 likely benign Hereditary cancer-predisposing syndrome 2019-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001486734 SCV001691208 likely benign Hereditary breast ovarian cancer syndrome 2024-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500721 SCV002807900 likely benign Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3 2022-02-08 criteria provided, single submitter clinical testing

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