ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1211dup (p.Asn404fs) (rs1555281775)

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
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661700 SCV000784004 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000483782 SCV000568943 likely pathogenic not provided 2015-12-01 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.1211dupA at the cDNA level and p.Asn404LysfsX17(N404KfsX17) at the protein level. The normal sequence, with the base that is duplicated in braces, is CTAA[A]TGGA. The duplication causes a frameshift, which changes an Asparagine to a Lysine at codon 404 in exon 10, and creates a premature stop codon at position 17 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. Based on the currently available information, we consider this duplication to be a likely pathogenic variant.

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.