ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7050C>T (p.Thr2350=) (rs587780870)

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Total submissions: 9
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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) RCV000494900 SCV000578953 likely benign Breast-ovarian cancer, familial 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 RCV000123990 SCV000167388 benign not specified 2014-04-24 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 RCV000164117 SCV000214732 likely benign Hereditary cancer-predisposing syndrome 2015-03-10 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 RCV001082050 SCV000560504 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-11 criteria provided, single submitter clinical testing
Color Health, Inc RCV000164117 SCV000683846 likely benign Hereditary cancer-predisposing syndrome 2017-02-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679184 SCV000805756 likely benign not provided 2017-05-26 criteria provided, single submitter clinical testing
Mendelics RCV000494900 SCV001139170 likely benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123990 SCV001448473 likely benign not specified 2020-11-25 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000679184 SCV001905741 likely benign not provided no assertion criteria provided clinical testing

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