ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.512dup (p.Arg173fs)

dbSNP: rs1603361705
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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 RCV001023591 SCV001185493 pathogenic Hereditary cancer-predisposing syndrome 2019-11-26 criteria provided, single submitter clinical testing The c.512dupG pathogenic mutation, located in coding exon 5 of the BRIP1 gene, results from a duplication of G at nucleotide position 512, causing a translational frameshift with a predicted alternate stop codon (p.R173Tfs*16). 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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