ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3161_3164dup (p.Ser1056fs)

dbSNP: rs1567792675
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693362 SCV000821228 pathogenic Hereditary breast ovarian cancer syndrome 2018-03-28 criteria provided, single submitter clinical testing Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This sequence change creates a premature translational stop signal (p.Ser1056Glyfs*5) 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 disease. For these reasons, this variant has been classified as Pathogenic.

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