ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2719_2722del (p.Glu907fs) (rs80357731)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
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) RCV000077526 SCV000299818 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 RCV000235604 SCV000293290 pathogenic not provided 2015-10-19 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in BRCA1 is denoted c.2719_2722delGAAG at the cDNA level and p.Glu907LysfsX92 (E907KfsX92) at the protein level. The normal sequence, with the bases that are deleted in braces, is AAAG[GAAG]AAAAT. The deletion causes a frameshift, which changes a Glutamic Acid to a Lysine at codon 907, and creates a premature stop codon at position 92 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.2719_2722delGAAG, also published as 2838_2841delGAAG and 2838del4 using alternate nomenclature, has been observed in several individuals with a history of breast and/or ovarian cancer (Finkelman 2002, Risch 2006, Zhang 2011). We consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077526 SCV000325444 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000235604 SCV000600298 pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509780 SCV000607769 pathogenic Hereditary cancer-predisposing syndrome 2018-03-07 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)
Color RCV000509780 SCV000683057 pathogenic Hereditary cancer-predisposing syndrome 2017-03-08 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077526 SCV000109327 pathogenic Breast-ovarian cancer, familial 1 2012-02-27 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077526 SCV000144521 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496462 SCV000587249 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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.