ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1254_1255del (p.Arg419fs)

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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 RCV002416824 SCV002677381 pathogenic Hereditary cancer-predisposing syndrome 2020-06-12 criteria provided, single submitter clinical testing The c.1254_1255delTC pathogenic mutation, located in coding exon 8 of the BRIP1 gene, results from a deletion of two nucleotides at nucleotide positions 1254 to 1255, causing a translational frameshift with a predicted alternate stop codon (p.R419Gfs*2). 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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