ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1794+2T>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 RCV002404234 SCV002714521 likely pathogenic Hereditary cancer-predisposing syndrome 2021-03-12 criteria provided, single submitter clinical testing The c.1794+2T>A intronic variant results from a T to A substitution two nucleotides after coding exon 11 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 donor site and may result in the creation or strengthening of a novel splice donor site. 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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