ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.547+1G>T (rs80358030)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212159 SCV000210076 pathogenic not provided 2017-10-04 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.547+1G>T or IVS7+1G>T and consists of a G>T nucleotide substitution at the +1 position of intron 7 of the BRCA1 gene. Using alternate nomenclature, this variant would be defined as BRCA1 c.666+1G>T or IVS8+1G>T. The 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 observed in at least one individual with familial breast/ovarian cancer (Evans 2003). Based on the current evidence, we consider BRCA1 c.547+1G>T to be pathogenic.
Ambry Genetics RCV000216456 SCV000276215 likely pathogenic Hereditary cancer-predisposing syndrome 2015-06-05 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112730 SCV000326326 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000216456 SCV000683322 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-29 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112730 SCV000145613 pathogenic Breast-ovarian cancer, familial 1 2000-06-12 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496454 SCV000587063 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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