ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1474-19A>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 RCV004602525 SCV005101039 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-07 criteria provided, single submitter clinical testing The c.1474-19A>G intronic variant results from an A to G substitution 19 nucleotides upstream from coding exon 10 in the BRIP1 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice acceptor site; however, direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear.

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