ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5407-1G>C (rs80358029)

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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 RCV000112643 SCV000326306 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000481406 SCV000564752 pathogenic not provided 2014-11-12 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.5407-1G>C or IVS21-1G>C and consists of a G>C nucleotide substitution at the -1 position of intron 21 of the BRCA1 gene. This variant, also known as BRCA1 5526-1G>C using alternate nomenclature, destroys a canonical splice acceptor 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.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112643 SCV000145499 pathogenic Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing

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