ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2244dup (p.Asp749fs)

dbSNP: rs2053796291
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061931 SCV001226695 pathogenic Hereditary breast ovarian cancer syndrome 2019-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp749Argfs*13) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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