ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1987dup (p.Thr663fs)

dbSNP: rs1603328816
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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 RCV001013917 SCV001174560 pathogenic Hereditary cancer-predisposing syndrome 2018-04-19 criteria provided, single submitter clinical testing The c.1987dupA pathogenic mutation, located in coding exon 13 of the BRIP1 gene, results from a duplication of A at nucleotide position 1987, causing a translational frameshift with a predicted alternate stop codon (p.T663Nfs*6). 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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