ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2492+1G>A

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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 RCV002430952 SCV002741822 likely pathogenic Hereditary cancer-predisposing syndrome 2023-06-09 criteria provided, single submitter clinical testing The c.2492+1G>A intronic variant results from a G to A substitution one nucleotide after coding exon 16 of the BRIP1 gene. This variant was not reported in population-based 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 donor 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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