ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.65dup (p.Tyr22Ter)

dbSNP: rs1406859817
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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 RCV001526252 SCV001736560 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-13 criteria provided, single submitter clinical testing This variant causes an insertion of 1 nucleotide in exon 2 of the BRIP1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. However, There are downstream in-frame methionines (Met28, Met29) that could potentially serve as alternate translation start site and rescue the deleterious effect of this variant. To our knowledge, functional studies have not been reported for this variant. This variant has not 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). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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