ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5807_5816delinsGTC (p.Met1936fs) (rs1555284407)

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
Ambry Genetics RCV000571638 SCV000673094 pathogenic Hereditary cancer-predisposing syndrome 2016-06-30 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 RCV000657470 SCV000779205 pathogenic not provided 2018-02-13 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted BRCA2 c.5807_5816del10insGTC at the cDNA level and p.Met1936SerfsX25 (M1936SfsX25) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 6035_6044del10insGTC or 6035del10insGTC. The surrounding sequence is AATA[del10][insGTC]GGAG. The variant causes a frameshift which changes a Methionine to a Serine at codon 1936, and creates a premature stop codon at position 25 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. 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.