ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3840T>C (p.Asp1280=)

gnomAD frequency: 0.00004  dbSNP: rs786201327
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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) RCV000495338 SCV000578562 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 RCV000163391 SCV000213931 likely benign Hereditary cancer-predisposing syndrome 2016-10-07 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.
Invitae RCV000456236 SCV000560438 likely benign Hereditary breast ovarian cancer syndrome 2021-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589556 SCV000694723 likely benign not specified 2021-07-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163391 SCV000906070 likely benign Hereditary cancer-predisposing syndrome 2018-03-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284086 SCV001469679 likely benign not provided 2020-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001284086 SCV001895808 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000589556 SCV002069504 uncertain significance not specified 2018-09-07 criteria provided, single submitter clinical testing

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