ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8533_8534AG[1] (p.Glu2846fs) (rs80359714)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570047 SCV000668528 pathogenic Hereditary cancer-predisposing syndrome 2017-05-09 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)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113957 SCV000147395 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000570047 SCV000906952 pathogenic Hereditary cancer-predisposing syndrome 2018-10-01 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113957 SCV000327917 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500249 SCV000592207 pathogenic Hereditary breast and ovarian cancer syndrome criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113957 SCV000301286 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000657231 SCV000778957 pathogenic not provided 2017-10-05 criteria provided, single submitter clinical testing This deletion of four nucleotides in BRCA2 is denoted c.8535_8538delAGAG at the cDNA level and p.Glu2846LysfsX16 (E2846KfsX16) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AAAG[delAGAG]GAAG. The deletion causes a frameshift which changes a Glutamic Acid to a Lysine at codon 2846, and creates a premature stop codon at position 16 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. Using alternate nomenclature, this variant would be defined as BRCA2 8763_8766delAGAG or 8763delAGAG. Hondow et al. (2011) reported BRCA2 c.8535_8538delAGAG as pathogenic, but the clinical details associated with the variant were not published. We consider this variant to be pathogenic.

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.