ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2601T>G (p.Thr867=)

gnomAD frequency: 0.00001  dbSNP: rs730881589
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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) RCV000495789 SCV000578526 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/).
GeneDx RCV000160216 SCV000210579 benign not specified 2014-10-01 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 RCV000166047 SCV000216808 likely benign Hereditary cancer-predisposing syndrome 2014-09-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000471612 SCV000560414 likely benign Hereditary breast ovarian cancer syndrome 2023-06-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166047 SCV000683494 likely benign Hereditary cancer-predisposing syndrome 2017-04-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000160216 SCV000694614 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Mendelics RCV000495789 SCV001139037 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000166047 SCV002535509 likely benign Hereditary cancer-predisposing syndrome 2021-11-03 criteria provided, single submitter curation

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