ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.442-?_4357+?del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000240375 SCV000299117 pathogenic Hereditary breast ovarian cancer syndrome 2016-08-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 7-12 of the BRCA1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. The 5' boundary is likely confined to intron 6, and the 3' boundary is likely confined to intron 12. Subgenic deletions in BRCA1 are known to be pathogenic. Deletions of exons 7-12 have been reported in the literature in individuals with breast and/or ovarian cancer (PMID: 25151137, 15475941, 21120943, 9927062, 17718857, 17688236). Deletion of exons 7-12 is also known as deletion of exons 8-13 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 RCV000258269 SCV000325958 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing

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