ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.848dup (p.Leu283fs)

dbSNP: rs2054036520
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247419 SCV001420840 pathogenic Hereditary breast ovarian cancer syndrome 2019-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu283Phefs*4) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800976 SCV002046415 likely pathogenic not provided 2020-11-14 criteria provided, single submitter clinical testing This frameshift variant is predicted to cause the premature termination of BRCA1 protein synthesis. To the best of our knowledge, the variant has not been reported in the published literature. This variant has not been reported in large, multi-ethnic general populations. Based on the available information, we predict that the variant is likely pathogenic.

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