ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3628_3629del (p.Thr1209_Asp1210insTer) (rs1555283318)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657834 SCV000779590 pathogenic not provided 2017-12-05 criteria provided, single submitter clinical testing This deletion of two nucleotides is denoted BRCA2 c.3628_3629delGA at the cDNA level and p.Asp1210Ter (D1210X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 3856_3857delGA. The normal sequence, with the bases that are deleted in brackets, is AACA[delGA]TGAA. The deletion creates a nonsense variant, which changes an Aspartic Acid to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been published in the literature, we consider it to be pathogenic.
Color RCV000773637 SCV000907331 pathogenic Hereditary cancer-predisposing syndrome 2018-08-14 criteria provided, single submitter 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.