ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1056_1077del (p.Tyr353fs)

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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 RCV002398825 SCV002713490 pathogenic Hereditary cancer-predisposing syndrome 2019-01-27 criteria provided, single submitter clinical testing The c.1056_1077del22 pathogenic mutation, located in coding exon 7 of the BRIP1 gene, results from a deletion of 22 nucleotides at nucleotide positions 1056 to 1077, causing a translational frameshift with a predicted alternate stop codon (p.Y353Kfs*14). 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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