ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5153-1G>A (rs80358137)

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Total submissions: 7
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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 RCV000112530 SCV000326180 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000522401 SCV000617447 pathogenic not provided 2017-10-17 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5153-1G>A or IVS17-1G>A and consists of a G>A nucleotidesubstitution at the -1 position of intron 17 of the BRCA1 gene. Using alternate nomenclature, this variant haspreviously been published as BRCA1 5272-1G>A. This variant destroys a canonical splice acceptor site and has beenshown to cause abnormal splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNAdecay or to an abnormal protein product (Beristain 2007, Sanz 2010, Steffensen 2014). This variant has beenreported in several breast/ovarian cancer families, and is considered a founder variant in certain Spanish populations(Osorio 2000, de la Hoya 2002, Diez 2003, Infante 2006, Infante 2010, de Juan Jimenez 2013, Hasmad 2015). Basedon the current evidence, we consider this variant to be pathogenic
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112530 SCV000744594 pathogenic Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000522401 SCV001133615 pathogenic not provided 2018-11-16 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. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112530 SCV000145352 pathogenic Breast-ovarian cancer, familial 1 1999-12-30 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496373 SCV000587472 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112530 SCV000733596 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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