ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6738A>G (p.Pro2246=)

gnomAD frequency: 0.00002  dbSNP: rs760272304
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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) RCV000410348 SCV000578982 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 RCV000163179 SCV000213700 likely benign Hereditary cancer-predisposing syndrome 2014-12-09 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 RCV000199751 SCV000253028 likely benign Hereditary breast ovarian cancer syndrome 2023-11-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768602 SCV000324876 uncertain significance Breast and/or ovarian cancer 2015-08-11 criteria provided, single submitter clinical testing
Counsyl RCV000410348 SCV000487824 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001721038 SCV000532125 likely benign not provided 2019-07-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163179 SCV000906148 likely benign Hereditary cancer-predisposing syndrome 2017-01-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001721038 SCV004220519 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing

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