ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.723del (p.Asn243fs) (rs886040694)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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 RCV000257104 SCV000327618 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) RCV000257104 SCV000324529 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000484009 SCV000570724 pathogenic not provided 2016-06-22 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.723delG at the cDNA level and p.Asn243MetfsX8 (N243MfsX8) at the protein level. The normal sequence, with the base that is deleted in braces, is TGAA[G]AAAAAT. The deletion causes a frameshift which changes an Asparagine to a Methionine at codon 243, and creates a premature stop codon at position 8 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.