ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3440del (p.Asn1147fs)

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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 RCV004952549 SCV005547714 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-25 criteria provided, single submitter clinical testing The c.3440delA variant, located in coding exon 19 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 3440, causing a translational frameshift with a predicted alternate stop codon (p.N1147Mfs*3). This alteration occurs at the 3' terminus of theBRIP1 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 8.25% of the protein. The exact functional effect of this alteration is unknown. This variant was identified amongst a cohort of 549 Japanese individuals diagnosed with prostate cancer (Kimura H et al. Br J Cancer, 2022 Nov;127:1680-1690). Based on the available evidence, the clinical significance of this variant remains unclear.

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