ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5161_5163del (p.Gln1721del)

dbSNP: rs80358346
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
GeneDx RCV000485800 SCV000571042 uncertain significance not provided 2016-07-21 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in BRCA1 is denoted c.5161_5163delCAG at the cDNA level and p.Gln1721del (Q1721del) at the protein level. The normal sequence, with the bases that are deleted in braces, is GACC[CAG]TCTA. This deletion of a single Glutamine residue occurs at a position that is not conserved and is located in the BRCT 1 domain as well as a region known to interact with multiple other proteins (Paul 2014, UniProt). 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 BRCA1 Gln1721del to be a variant of uncertain significance.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112542 SCV000145366 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 1999-12-30 no assertion criteria provided clinical testing

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.