ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2026dup (p.Val676fs)

dbSNP: rs1603328667
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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 RCV001014106 SCV001174780 pathogenic Hereditary cancer-predisposing syndrome 2019-06-24 criteria provided, single submitter clinical testing The c.2026dupG pathogenic mutation, located in coding exon 13 of the BRIP1 gene, results from a duplication of G at nucleotide position 2026, causing a translational frameshift with a predicted alternate stop codon (p.V676Gfs*41). 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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