ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5075-?_5193+?del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258342 SCV000326139 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000460596 SCV000564058 pathogenic Hereditary breast ovarian cancer syndrome 2016-11-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 17-18 of the BRCA1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Gross deletions in BRCA1 are known to be pathogenic. A similar deletion encompassing exon 17-18 has been reported in the literature in patients and families affected with breast and ovarian cancer (PMID: 12700174, 17333342, 17561994, 18431737). Deletion of exons 17-18 is also known as deletion of exons 18-19 in the literature. For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000501600 SCV000591644 pathogenic Hereditary breast ovarian cancer syndrome 2013-05-29 criteria provided, single submitter clinical testing

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