ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3084_3094del (p.Asn1029fs) (rs80357647)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213895 SCV000275779 pathogenic Hereditary cancer-predisposing syndrome 2015-05-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077537 SCV000144631 pathogenic Breast-ovarian cancer, familial 1 1999-08-31 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077537 SCV000325552 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000077537 SCV000564355 pathogenic Breast-ovarian cancer, familial 1 2015-01-12 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077537 SCV000299880 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000255873 SCV000322082 pathogenic not provided 2017-05-30 criteria provided, single submitter clinical testing This deletion of 11 nucleotides in BRCA1 is denoted c.3084_3094del11 at the cDNA level and p.Asn1029ArgfsX5 (N1029RfsX5) at the protein level. The surrounding sequence is GCCG[del11]GAGA. This deletion causes a frameshift, which changes an Asparagine to an Arginine at codon 1029, and creates a premature stop codon at position 5 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.3084_3094del11, also published as 3203_3213del11 and 3203del11 using alternate nomenclature, has been observed in at least five Hereditary Breast and Ovarian Cancer families and is reported to be a pathogenic founder variant in individuals of Norwegian ancestry (Møller 2007, Janavicius 2010). We consider this variant to be pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000048068 SCV000699003 pathogenic Hereditary breast and ovarian cancer syndrome 2017-08-07 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3084_3094delTAATAACATTA (p.Asn1029Argfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.3228_3229delAG, p.Gly1077fs). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121364 control chromosomes. The variant has been reported in numerous affected individuals in the literature and is considered a common Norwegian founder mutation. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Invitae RCV000048068 SCV000076081 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1029Argfs*5) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several Norwegian families affected with breast and/or ovarian cancer (PMID: 17574839), and an individual with triple-negative breast cancer (PMID: 25452441). It is suggested to be a Norwegian founder variant (PMID: 23199084). It is also known as 3203del11 in the literature. ClinVar contains an entry for this variant (Variation ID: 54768). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000255873 SCV000600316 pathogenic not provided 2016-09-08 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000048068 SCV000587279 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077537 SCV000109338 pathogenic Breast-ovarian cancer, familial 1 2012-08-18 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.