ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5193+1del (rs397509236)

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Total submissions: 3
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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 RCV000258440 SCV000326197 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000486777 SCV000566620 pathogenic not provided 2015-05-16 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.5193+1delG or IVS18+1delG and consists of a deletion of the guanine (G) nucleotide at the +1 position of intron 18 of the BRCA1 gene. The variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has not, to our knowledge, been published in the literature. Based on the current evidence, we consider BRCA1 c.5193+1delG to be pathogenic.
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785210 SCV000923778 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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