ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2859del (p.Asn955fs)

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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 RCV002435440 SCV002752770 likely pathogenic Hereditary cancer-predisposing syndrome 2021-10-05 criteria provided, single submitter clinical testing The c.2859delC variant, located in coding exon 18 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 2859, causing a translational frameshift with a predicted alternate stop codon (p.N955Ifs*30). This alteration occurs at the 3' terminus of the BRIP1 gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 295 amino acids of the protein. However, premature stop codons are typically deleterious in nature, 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 majority of available evidence to date, this variant is likely to be pathogenic.

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