ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.632-2A>C (rs397507842)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562710 SCV000666122 likely pathogenic Hereditary cancer-predisposing syndrome 2016-12-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Invitae RCV000462608 SCV000549621 pathogenic Hereditary breast and ovarian cancer syndrome 2016-10-12 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the BRCA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a BRCA2-related disease. A different variant affecting this nucleotide (c.632-2A>G, also known as IVS7-2A>G) has been reported in a patient affected with male breast cancer (PMID: 18819001). Experimental studies demonstrated that the c.632-2A>G change causes skipping of exon 8, leading to a frameshift and a premature stop codon (p.Val211Glufs*10), indicating that this nucleotide may be crucial for normal RNA splicing. For these reasons, this variant has been classified as Pathogenic.

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