ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.576dup (p.Val193fs)

dbSNP: rs2078747114
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179941 SCV001344744 pathogenic Hereditary cancer-predisposing syndrome 2019-08-05 criteria provided, single submitter clinical testing This variant inserts 1 nucleotide in exon 6 of the BRIP1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRIP1 function is a known mechanism of disease. Based on available evidence, this variant is classified as Pathogenic.

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