ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.628-3C>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 RCV002353927 SCV002655925 likely pathogenic Hereditary cancer-predisposing syndrome 2021-01-22 criteria provided, single submitter clinical testing The c.628-3C>G intronic variant results from a C to G substitution 3 nucleotides upstream from coding exon 6 in the BRIP1 gene. This nucleotide position is highly conserved in available vertebrate species. 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). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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