ClinVar Miner

Submissions for variant NC_000017.11:g.(?_43104102)_(43104281_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032744 SCV001196051 pathogenic Hereditary breast ovarian cancer syndrome 2019-05-12 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 6 of the BRCA1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exon 6 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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