ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs)

dbSNP: rs2144697372
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001910036 SCV002182615 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2021-02-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr733Lysfs*27) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BRIP1-related conditions. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV002423020 SCV002724940 pathogenic Hereditary cancer-predisposing syndrome 2019-05-03 criteria provided, single submitter clinical testing The c.2196_2197dupAA pathogenic mutation, located in coding exon 14 of the BRIP1 gene, results from a duplication of AA at nucleotide position 2196, causing a translational frameshift with a predicted alternate stop codon (p.T733Kfs*27). 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. RCV003336460 SCV004045435 pathogenic Familial cancer of breast 2023-06-06 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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