ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4186-?_4357+?dup172

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168158 SCV000218819 pathogenic Hereditary breast ovarian cancer syndrome 2017-01-21 criteria provided, single submitter clinical testing This sequence change is a gross duplication of the genomic region encompassing exon 12 of the BRCA1 gene. Although the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic. Similar duplications of exon 12, also known as exon 13 in the literature, have been reported in individuals affected with hereditary breast and ovarian cancer (PMID: 12698193, 20616022). One particular exon 12 duplication is considered a common BRCA1 founder mutation present in diverse populations (PMID: 9915971, 10827109, 20232141, 15951973). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258418 SCV000325882 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine, Queen's University RCV000168158 SCV000588056 pathogenic Hereditary breast ovarian cancer syndrome 2017-04-20 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000168158 SCV000590976 pathogenic Hereditary breast ovarian cancer syndrome criteria provided, single submitter clinical testing

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