ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2446_2447delinsGTCTTCTACCTGGCCT (p.Trp816fs)

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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 RCV002455396 SCV002737977 pathogenic Hereditary cancer-predisposing syndrome 2020-03-16 criteria provided, single submitter clinical testing The c.2446_2447delTGins16 pathogenic mutation, located in coding exon 16 of the BRIP1 gene, results from the deletion of TG at nucleotide positions 2446 to 2447 and insertion of 16 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.W816Vfs*15). 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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