ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10188T>C (p.Ser3396=)

gnomAD frequency: 0.00001  dbSNP: rs776043746
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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) RCV000495410 SCV000579026 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 RCV000165363 SCV000216089 likely benign Hereditary cancer-predisposing syndrome 2014-12-22 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 RCV000198167 SCV000252993 likely benign Hereditary breast ovarian cancer syndrome 2023-12-25 criteria provided, single submitter clinical testing
GeneDx RCV001704203 SCV000515766 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19471317)
Color Diagnostics, LLC DBA Color Health RCV000165363 SCV000906835 likely benign Hereditary cancer-predisposing syndrome 2018-09-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798588 SCV002042375 likely benign Breast and/or ovarian cancer 2022-11-10 criteria provided, single submitter clinical testing

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