ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7976+2C>G (rs886040943)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580796 SCV000683924 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000478296 SCV000564794 pathogenic not provided 2018-08-24 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.7976+2C>G or IVS17+2C>G and consists of a C>G nucleotide substitution at the +2 position of intron 17 of the BRCA2 gene. Using alternate nomenclature, this variant would be defined as BRCA2 8204+2C>G. This variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. It would be predicted to result in an in-frame deletion of the adjacent exon 17, and loss of exon 17 has been demonstrated to disrupt BRCA2 protein function (Wu 2005). BRCA2 c.7976+2C>G has been reported in at least one individual referred for BRCA1/2 testing (Costa 2013). Based on currently available evidence, we consider this variant to be pathogenic.

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