ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2039T>A (p.Leu680Ter)

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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 RCV003382373 SCV004098146 pathogenic Hereditary cancer-predisposing syndrome 2023-08-24 criteria provided, single submitter clinical testing The p.L680* pathogenic mutation (also known as c.2039T>A), located in coding exon 13 of the BRIP1 gene, results from a T to A substitution at nucleotide position 2039. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This changes the amino acid from a leucine to a stop codon within coding exon 13. 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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