ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5074+1G>T (rs80358053)

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Total submissions: 6
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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 RCV000031211 SCV000326133 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000482341 SCV000568399 pathogenic not provided 2016-08-02 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5074+1G>T or IVS16+1G>T and consists of a G>T nucleotide substitution at the +1 position of intron 16 of the BRCA1 gene. Using alternate nomenclature, this variant has previously been published as BRCA1 5193+1G>T and IVS17+1G>T. This variant destroys a canonical splice donor 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 multiple individuals with a personal and/or family history consistent with Hereditary Breast and Ovarian Cancer (Choi 2004, Kang 2015, Gonzalez-Rivera 2016, Seifert 2016). Brose et al. (2004) performed RT-PCR studies that revealed that this variant produces a truncated protein product. In addition, Steffensen et. al. (2014) used a mingene assay to further evaluate the splicing defect caused by this variant and two aberrant transcripts were observed, both of which are expected to result in a truncated protein product. Based on the current evidence, we consider this variant to be pathogenic.
Color RCV000772123 SCV000905198 pathogenic Hereditary cancer-predisposing syndrome 2016-01-27 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031211 SCV000053811 likely pathogenic Breast-ovarian cancer, familial 1 2007-03-20 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031211 SCV000145289 pathogenic Breast-ovarian cancer, familial 1 1999-04-12 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496776 SCV000587451 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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