ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2103del (p.Glu702fs)

dbSNP: rs2144701568
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001906117 SCV002162553 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2022-03-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu702Lysfs*3) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003452092 SCV004185998 pathogenic Familial cancer of breast 2023-11-06 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003452092 SCV004211349 likely pathogenic Familial cancer of breast 2022-04-14 criteria provided, single submitter clinical testing

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