ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.781dup (p.Arg261fs)

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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 RCV002409987 SCV002673348 pathogenic Hereditary cancer-predisposing syndrome 2019-06-27 criteria provided, single submitter clinical testing The c.781dupA pathogenic mutation, located in coding exon 6 of the BRIP1 gene, results from a duplication of A at nucleotide position 781, causing a translational frameshift with a predicted alternate stop codon (p.R261Kfs*27). 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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