ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1439dupA (p.Asn480Lysfs) (rs80357505)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000083022 SCV000299598 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000129465 SCV000184235 pathogenic Hereditary cancer-predisposing syndrome 2017-12-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083022 SCV000325069 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000047474 SCV000588034 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-20 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000047474 SCV000591331 pathogenic Hereditary breast and ovarian cancer syndrome 2014-04-16 criteria provided, single submitter clinical testing
Invitae RCV000047474 SCV000075487 pathogenic Hereditary breast and ovarian cancer syndrome 2014-06-11 no assertion criteria provided clinical testing This sequence change has been reported in patients affected with breast cancer (PMID: 10528853) This sequence change results in a premature translational stop signal at codon 489, and is expected to result in an absent or disrupted protein product.
Sharing Clinical Reports Project (SCRP) RCV000083022 SCV000115096 pathogenic Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083022 SCV000144093 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 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.