ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5193+1G>C (rs80358004)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131171 SCV000186117 pathogenic Hereditary cancer-predisposing syndrome 2013-01-08 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112550 SCV000326199 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000486220 SCV000568397 pathogenic not provided 2016-02-11 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5193+1G>C or IVS18+1G>C and consists of a G>C nucleotide substitution at the +1 position of intron 18 of the BRCA1 gene. Using alternate nomenclature, this variant has been previously published as BRCA1 IVS19+1G>C and BRCA1 5312+1G>C. 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 a high risk breast and/or ovarian cancer patient (Kwong 2012). Based on the current evidence, we consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112550 SCV000145379 pathogenic Breast-ovarian cancer, familial 1 2013-02-20 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.