ClinVar Miner

Submissions for variant NM_001330368.2(C11orf65):c.641-34170del (rs886039630)

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 RCV000255851 SCV000322554 likely pathogenic not provided 2016-04-15 criteria provided, single submitter clinical testing This deletion of one nucleotide in ATM is denoted c.8288delG at the cDNA level and p.Arg2763GlnfsX43 (R2763QfsX43) at the protein level. The normal sequence, with the base that is deleted in braces, is CAGC[G]AAGT. The deletion causes a frameshift which changes an Arginine to a Glutamine at codon 2763, and creates a premature stop codon at position 43 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 deletion to be a likely pathogenic variant.
Ambry Genetics RCV001027365 SCV001189908 pathogenic Hereditary cancer-predisposing syndrome 2019-07-24 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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.