ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2520_2521dup (p.Ala841fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002433046 SCV002742028 pathogenic Hereditary cancer-predisposing syndrome 2021-07-13 criteria provided, single submitter clinical testing The c.2520_2521dupAG pathogenic mutation, located in coding exon 17 of the BRIP1 gene, results from a duplication of AG at nucleotide position 2520, causing a translational frameshift with a predicted alternate stop codon (p.A841Efs*5). 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.
Myriad Genetics, Inc. RCV003336739 SCV004045080 pathogenic Familial cancer of breast 2023-06-07 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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