ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4485-?_4675+?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 RCV000240322 SCV000299103 pathogenic Hereditary breast ovarian cancer syndrome 2015-12-22 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 14 of the BRCA1 gene. This is predicted to create 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. This particular deletion has been reported in the literature in individuals affected with hereditary breast and ovarian cancer (PMID: 22006311, 16793929). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258493 SCV000325980 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing

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