ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1140+6T>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 RCV002451978 SCV002612610 likely pathogenic Hereditary cancer-predisposing syndrome 2024-06-06 criteria provided, single submitter clinical testing The c.1140+6T>C intronic variant results from a T to C substitution 6 nucleotides after coding exon 7 in the BRIP1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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