ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2820del (p.Ile941fs)

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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 RCV004602534 SCV005101062 pathogenic Hereditary cancer-predisposing syndrome 2024-05-23 criteria provided, single submitter clinical testing The c.2820delG pathogenic mutation, located in coding exon 18 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 2820, causing a translational frameshift with a predicted alternate stop codon (p.I941Yfs*44). This alteration occurs at the 3' terminus of theBRIP1 gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 309 amino acids of the protein. However, premature stop codons are typically deleterious in nature and a significant portion of the protein is affected and the impacted region is critical for protein function (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this variant is interpreted as a disease-causing mutation.

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