ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.548-?_4185+?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 RCV000206198 SCV000259831 pathogenic Hereditary breast ovarian cancer syndrome 2017-01-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 8-11 of the BRCA1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants, including exon-level deletions, in BRCA1 are known to be pathogenic. A similar deletion of exons 8-11 has been reported in individuals and families affected with breast and/or ovarian cancer, and is highly prevalent in the Hispanic population (PMID: 17646271, 24522996, 22544547, 25236687). This variant is also known as deletion of exons 9-12 in the literature. For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258331 SCV000326331 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing

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