ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.147_151dup (p.Gly51fs)

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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 RCV004602528 SCV005101048 pathogenic Hereditary cancer-predisposing syndrome 2024-05-09 criteria provided, single submitter clinical testing The c.147_151dupAAGTG pathogenic mutation, located in coding exon 2 of the BRIP1 gene, results from a duplication of AAGTG at nucleotide position 147, causing a translational frameshift with a predicted alternate stop codon (p.G51Efs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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