ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.632-2A>G (rs397507842)

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
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258386 SCV000327393 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000220032 SCV000279216 pathogenic not provided 2016-02-18 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.632-2A>G or IVS7-2A>G and consists of an A>G nucleotide substitution at the -2 position of intron 7 of the BRCA2 gene. Using alternate nomenclature, this variant would be defined as BRCA2 860-2A>G. This variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant was reported in a male with breast cancer and via RNA analysis was found to cause exonic skipping and create a premature stop codon (Ottini 2009). Based on the current evidence, 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.