ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.94-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002443412 SCV002682927 likely pathogenic Hereditary cancer-predisposing syndrome 2021-05-19 criteria provided, single submitter clinical testing The c.94-2A>G intronic variant results from an A to G substitution two nucleotides upstream from coding exon 2 in the BRIP1 gene. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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