ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5278-1G>C (rs80358099)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129416 SCV000184186 pathogenic Hereditary cancer-predisposing syndrome 2018-02-05 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Functionally-validated splicing mutation
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077612 SCV000326243 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000482206 SCV000566733 pathogenic not provided 2015-05-26 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.5278-1G>C or IVS19-1G>C and consists of a G>C nucleotide substitution at the -1 position of intron 19 of the BRCA1 gene. Using alternate nomenclature, this variant has been published as BRCA1 5397-1G>C. The 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 was observed in a Spanish hereditary breast/ovarian cancer family (De La Hoya 2002, Diez 2003) and associated with exon skipping in an in vitro PAXgene assay (Houdayer 2012). Based on current information, we consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000482206 SCV001133621 pathogenic not provided 2019-06-28 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Color RCV000129416 SCV001353827 pathogenic Hereditary cancer-predisposing syndrome 2020-05-07 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077612 SCV000109415 pathogenic Breast-ovarian cancer, familial 1 2010-09-30 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496568 SCV000587487 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Brotman Baty Institute,University of Washington RCV000077612 SCV001243039 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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