ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4986+6T>G (rs80358086)

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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 RCV000131820 SCV000186875 likely pathogenic Hereditary cancer-predisposing syndrome 2014-03-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077591 SCV000145239 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769711 SCV000901131 pathogenic Breast and/or ovarian cancer 2017-03-08 criteria provided, single submitter clinical testing
Color RCV000131820 SCV000688529 pathogenic Hereditary cancer-predisposing syndrome 2017-03-31 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077591 SCV000326086 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000077591 SCV000785365 likely pathogenic Breast-ovarian cancer, familial 1 2017-07-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496750 SCV000591551 pathogenic Hereditary breast and ovarian cancer syndrome 2012-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000236376 SCV000293234 pathogenic not provided 2015-10-07 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.4986+6T>G or IVS15+6T>G and consists of a T>G nucleotide substitution at the +6 position of intron 15 of the BRCA1 gene. Multiple in silico models predict this variant to weaken the nearby natural donor site, and to possibly cause abnormal gene splicing. An RT-PCR study reported that this variant is associated with aberrant splicing, and leads to a 65bp insertion and a predicted stop codon (Chen 2006). This variant, also denoted BRCA1 5105+6T>G and IVS16+6T>G using alternate nomenclature, has been reported in association with breast and ovarian cancer (Risch 2001, Chen 2006, Zhang 2011, Litton 2012, Schneegans 2012). Based on the currently available information, we consider BRCA1 c.4986+6T>G to be a pathogenic variant.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496750 SCV000587439 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077591 SCV000109394 pathogenic Breast-ovarian cancer, familial 1 2012-07-23 no assertion criteria provided clinical testing

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