ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9321A>C (p.Ile3107=)

gnomAD frequency: 0.00001  dbSNP: rs876658703
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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) RCV000495314 SCV000578831 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 RCV000218754 SCV000274312 likely benign Hereditary cancer-predisposing syndrome 2015-03-04 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 RCV000541649 SCV000635738 likely benign Hereditary breast ovarian cancer syndrome 2024-11-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000218754 SCV000903696 likely benign Hereditary cancer-predisposing syndrome 2018-02-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781091 SCV000918908 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000218754 SCV002532022 likely benign Hereditary cancer-predisposing syndrome 2020-11-06 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003389764 SCV004132999 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing BRCA2: BP4, BP7
BRCAlab, Lund University RCV000495314 SCV004243867 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2020-03-02 no assertion criteria provided clinical testing

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