ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6842-2A>G (rs1555285132)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000584318 SCV000689004 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-19 criteria provided, single submitter clinical testing
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine RCV000709713 SCV000839907 likely pathogenic Breast-ovarian cancer, familial 2 2017-01-18 criteria provided, single submitter clinical testing This c.6842-2A>G variant has not previously been reported in public databases, nor been observed in our patient cohort. This variant affects the invariant acceptor splice site of intron 11. While not validated for clinical use, one computer-based algorithm predicts this variant to activate a cryptic splice site within exon 12 at position c.6843_6844GA, which would result in the lost of nucleotide c.6842 to c.6844 and an inframe glycine deletion at position 2281 . It is thus interpreted as a likely pathogenic variant.

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