ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4097-2A>G (rs80358019)

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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 RCV000112256 SCV000325846 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000522942 SCV000617450 pathogenic not provided 2017-10-19 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.4097-2A>G or IVS10-2A>G and consists of an A>G nucleotidesubstitution at the -2 position of intron 10 of the BRCA1 gene. Using alternate nomenclature, this variant would bedefined as BRCA1 4216-2A>G. This variant destroys a canonical splice acceptor site and is predicted to causeabnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay orto an abnormal protein product. This variant has been reported in association with hereditary breast and ovariancancer and is considered to be a recurrent pathogenic variant in the Finnish population (Vehmanen 1997, Huusko1998, Hartikainen 2000, Janavicius 2010). Based on the current evidence, we consider this variant to be pathogenic
Breast Cancer Information Core (BIC) (BRCA1) RCV000112256 SCV000144978 pathogenic Breast-ovarian cancer, familial 1 1999-06-21 no assertion criteria provided clinical testing

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