ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9107_9109AAC[1] (p.Gln3037del) (rs1064794358)

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 RCV000562161 SCV000661397 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000479615 SCV000568942 uncertain significance not provided 2015-12-01 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in BRCA2 is denoted c.9110_9112delAAC at the cDNA level and p.Gln3037del (Q3037del) at the protein level. The normal sequence, with the bases that are deleted in braces, is CAAC[AAC]TACC. This deletion of a single Glutamine residue in exon 23 occurs at a position that is not conserved across species and is located within the DNA binding domain (Borg 2010). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA2 Gln3037del to be a variant of uncertain significance.

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.