ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9100C>T (p.Gln3034Ter) (rs80359163)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000114047 SCV000147536 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000114047 SCV000328049 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000114047 SCV000301353 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 RCV000220911 SCV000278885 pathogenic not provided 2018-03-05 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.9100C>T at the cDNA level and p.Gln3034Ter (Q3034X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 9328C>T. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in three individuals with breast cancer (Jian 2017, Sun 2017), and is considered pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496303 SCV000587987 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.