ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2365del (p.Asn788_Val789insTer)

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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 RCV004519816 SCV005029334 pathogenic Hereditary cancer-predisposing syndrome 2024-03-13 criteria provided, single submitter clinical testing The c.2365delG pathogenic mutation, located in coding exon 15 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 2365, causing a translational frameshift with a predicted alternate stop codon (p.V789*). 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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