ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4940_4941del (p.Thr1647fs) (rs397507751)

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) RCV000077342 SCV000300805 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000132504 SCV000187598 pathogenic Hereditary cancer-predisposing syndrome 2017-04-12 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077342 SCV000327108 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000487067 SCV000568469 pathogenic not provided 2017-10-09 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA2 is denoted c.4940_4941delCA at the cDNA level and p.Thr1647SerfsX18 (T1647SfsX18) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GAAA[delCA]GCAA. The deletion causes a frameshift which changes a Threonine to a Serine at codon 1647, and creates a premature stop codon at position 18 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. This variant, also reported as BRCA2 5168_5169delCA or 5168delCA using alternate nomenclature, was observed in at least one male breast cancer case as well as in one individual with a family history of breast cancer (De Leon Matsuda 2002, Pritzlaff 2016). We consider this variant to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077342 SCV000109139 pathogenic Breast-ovarian cancer, familial 2 2010-09-22 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496442 SCV000587733 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.