ClinVar Miner

Submissions for variant NC_000017.11:g.(?_43057031)_(43057155_?)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 RCV001031682 SCV001194988 pathogenic Hereditary breast ovarian cancer syndrome 2019-12-20 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 19 of the BRCA1 gene. It preserves the integrity of the reading frame. Deletion of exon 19 has been reported in the literature in individuals affected with breast and ovarian cancer (PMID: 20232141, 24522996, 23479189). Deletion of exon 19 is also known as deletion of exon 20 by alternative exon numbering in the literature. The amino acid residues encoded by exon 19 make up part of the BRCT domain, which is known to be important for BRCA1 function (PMID: 20516115). For these reasons, this variant has been classified as Pathogenic.

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