ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4987-?_5193+?del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199696 SCV000253715 pathogenic Hereditary breast ovarian cancer syndrome 2016-12-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 16-18 of the BRCA1 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Deletion of exons 16-18 have been reported in the literature in individuals affected with breast and ovarian cancer (PMID: 18097605, 18546071, 10978226, 23704984). This variant is also known as deletion of exons 17-19 in the literature. This deletion results in the loss of 69 amino acid residues located in the BRCT1 domain of the BRCA1 protein. This domain is essential for BRCA1 protein-protein interactions (PMID: 15133502). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258168 SCV000326089 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing

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