ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)

dbSNP: rs1060501766
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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 RCV000689517 SCV000817171 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2020-01-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant has not been reported in the literature in individuals with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 568994). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln869*) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003336137 SCV004043448 pathogenic Familial cancer of breast 2023-06-07 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Baylor Genetics RCV003336137 SCV004211347 likely pathogenic Familial cancer of breast 2022-05-12 criteria provided, single submitter clinical testing

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