ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1727dup (p.Asn576fs)

dbSNP: rs587778131
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002399486 SCV002713702 pathogenic Hereditary cancer-predisposing syndrome 2022-06-23 criteria provided, single submitter clinical testing The c.1727dupA pathogenic mutation, located in coding exon 11 of the BRIP1 gene, results from a duplication of A at nucleotide position 1727, causing a translational frameshift with a predicted alternate stop codon (p.N576Kfs*2). This variant was identified in a cohort of 681 ancestrally diverse, healthy subjects (Bodian DL et al. PLoS One, 2014 Apr;9:e94554). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. RCV003335106 SCV004044170 pathogenic Familial cancer of breast 2023-06-05 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
ITMI RCV000120390 SCV000084542 not provided not specified 2013-09-19 no assertion provided reference population

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