ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4358-?_5074+?del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258492 SCV000325937 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000457777 SCV000564052 likely pathogenic Hereditary breast ovarian cancer syndrome 2016-08-18 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 13-16 of the BRCA1 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Loss-of-function variants in BRCA1 are known to be pathogenic. This particular variant has been reported in the literature in a patient with breast cancer (PMID: 9354803). In addition, this variant deletes the BRCT1 domain, which affects BRCA1 protein-protein interactions resulting in a folding defect, leading to an inactive protein (PMID: 15133502). For these reasons, this variant has been classified as Likely Pathogenic.

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