ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3455T>G (p.Leu1152Ter) (rs80358593)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
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) RCV000113180 SCV000300636 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505837 SCV000296510 pathogenic not provided 2016-05-20 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113180 SCV000326868 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509646 SCV000608126 pathogenic Hereditary cancer-predisposing syndrome 2016-07-06 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)
GeneDx RCV000505837 SCV000779332 pathogenic not provided 2018-05-04 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.3455T>G at the cDNA level and p.Leu1152Ter (L1152X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also known as BRCA2 3683T>G using alternate nomenclature, has been reported in association with hereditary breast and ovarian cancer syndrome (Guti?rrez-Enr?quez 2011, Gabald? Barrios 2017) and is considered pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113180 SCV000146239 pathogenic Breast-ovarian cancer, familial 2 2001-10-29 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.