ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)

dbSNP: rs1567732136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221150 SCV001393176 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2024-05-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser861Phefs*2) 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 present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 949645). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003336345 SCV004044544 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.
Baylor Genetics RCV003336345 SCV004214682 likely pathogenic Familial cancer of breast 2023-10-11 criteria provided, single submitter clinical testing

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