ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5194-2A>G (rs80358069)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131860 SCV000186915 pathogenic Hereditary cancer-predisposing syndrome 2017-05-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Other strong data supporting pathogenic classification
Breast Cancer Information Core (BIC) (BRCA1) RCV000031228 SCV000145388 pathogenic Breast-ovarian cancer, familial 1 1999-06-21 no assertion criteria provided clinical testing
Color RCV000131860 SCV000683270 likely pathogenic Hereditary cancer-predisposing syndrome 2018-07-15 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031228 SCV000326210 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496913 SCV000591591 pathogenic Hereditary breast and ovarian cancer syndrome 2013-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000256055 SCV000322128 likely pathogenic not provided 2018-12-31 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5194-2A>G or IVS18-2A>G and consists of a A>G nucleotide substitution at the -2 position of intron 18 of the BRCA1 gene. Using alternate nomenclature, this variant has been previously published as BRCA1 5313-2A>G and IVS19-2A>G. This variant 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 been reported in individuals with breast cancer and/or clinical features of Hereditary Breast/Ovarian Cancer syndrome (Esteban-Cardenosa 2004, Shirts 2016, Park 2017). Based on the currently available information, we consider BRCA1 c.5194-2A>G to be a likely pathogenic variant.
Integrated Genetics/Laboratory Corporation of America RCV000496913 SCV000699220 pathogenic Hereditary breast and ovarian cancer syndrome 2016-02-29 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496913 SCV000587477 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031228 SCV000053828 pathogenic Breast-ovarian cancer, familial 1 2011-04-11 no assertion criteria provided clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000031228 SCV000266034 pathogenic Breast-ovarian cancer, familial 1 2015-11-20 criteria provided, single submitter clinical testing

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