ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.-19-?_80+?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 RCV000240186 SCV000299145 pathogenic Hereditary breast ovarian cancer syndrome 2017-01-17 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 of the BRCA1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the BRCA1 gene. This change is expected to result in an absent or disrupted protein product. Deletions of exons 1 (non-coding) and 2 have been reported as a recurrent mutation in individuals affected with breast and ovarian cancer (PMID: 19405878, 16715518, 26911350, 23479189, 12700174, 23640417, 20727672). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258173 SCV000325170 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing

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