ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.71dup (p.Gln25fs)

dbSNP: rs2145864140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381321 SCV001579646 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2022-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln25Thrfs*44) 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. ClinVar contains an entry for this variant (Variation ID: 1069454). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Myriad Genetics, Inc. RCV003336393 SCV004043101 pathogenic Familial cancer of breast 2023-05-30 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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