ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.136_137del (p.Pro47fs)

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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 RCV004517830 SCV005029148 pathogenic Hereditary cancer-predisposing syndrome 2023-11-03 criteria provided, single submitter clinical testing The c.136_137delAG pathogenic mutation, located in coding exon 2 of the BRIP1 gene, results from a deletion of two nucleotides at nucleotide positions 136 to 137, causing a translational frameshift with a predicted alternate stop codon (p.P47Hfs*21). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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