ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1141-1G>C

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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 RCV004602540 SCV005101075 likely pathogenic Hereditary cancer-predisposing syndrome 2024-05-31 criteria provided, single submitter clinical testing The c.1141-1G>C intronic variant results from a G to C substitution one nucleotide upstream from coding exon 8 of the BRIP1 gene. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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; however, direct evidence is insufficient at this time (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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