ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8331+16C>G (rs730881595)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160250 SCV000210668 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.
Invitae RCV001086433 SCV000253047 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-02 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579621 SCV000683956 likely benign Hereditary cancer-predisposing syndrome 2016-12-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589540 SCV000695144 likely benign not provided 2016-04-07 criteria provided, single submitter clinical testing Variant summary: The c.8331+16C>G variant affects a non-conserved nucleotide, resulting in an intronic change at a position not widely known to affect splicing. Mutation Taster predicts benign outcome. 5/5 in silico tools via Alamut predict no effect in consensus splice donor site or no creation of cryptic splice donor sites. The variant was found not to affect splicing in an in vitro minigene assay, suggesting for a benign outcome (Thery_2011). This variant was found in 5/112496 control chromosomes from the broad and large populations of ExAC at a frequency of 0.0000444. It was found only in African subpopulation with an allele frequency of 0.00008 (5/61584 chromosomes). Although the frequency does not exceed the maximal expected frequency of a pathogenic allele (0.0007503) in this gene, it may still suggest that the variant could be a rare polymorphism in Africans. In literature, this variant has been reported in one breast cancer case who also carried a known pathogenic variant BRCA1 185delAG (Hansen_2011), further supporting for a benign outcome. In addition, two clinical laboratories have classified this variant as benign/likely benign. Taken together, the variant has currently been classified as Likely Benign until additional information becomes available.
Counsyl RCV000662508 SCV000785040 likely benign Breast-ovarian cancer, familial 2 2017-03-20 criteria provided, single submitter clinical testing

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