ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter)

dbSNP: rs1603368491
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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 RCV001306224 SCV001495585 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2020-09-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BRIP1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). However, there is uncertainty with this variant as to whether an alternate in-frame methionine (p.Met4), downstream of the initiator codon, could potentially rescue translation initiation. Experimental studies are not available for this variant, and the functional significance of this variant is unknown. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser3*) in the BRIP1 gene. However, it is currently unclear if variants that occur in this region of the gene cause disease.
Myriad Genetics, Inc. RCV003316838 SCV004020023 pathogenic Familial cancer of breast 2023-02-13 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.

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