ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) (rs886041125)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624014 SCV000741382 pathogenic Inborn genetic diseases 2016-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Baylor Genetics RCV000496332 SCV000807329 pathogenic KBG syndrome 2017-09-01 criteria provided, single submitter clinical testing This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found twice in our laboratory as de novo findings in affected individuals. One was a 6-year-old female with epilepsy, hypotonia, delays; other in a 10-year-old male with intellectual disability, dysmorphic features, short fingers, left duplicated renal system.
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000496332 SCV000598143 pathogenic KBG syndrome 2016-10-26 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626912 SCV000747615 likely pathogenic Global developmental delay; Ptosis; Clinodactyly of the 5th finger; Conductive hearing impairment; Intellectual disability; Short foot; Short palm; Unilateral cryptorchidism 2017-01-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000496332 SCV000733554 pathogenic KBG syndrome no assertion criteria provided clinical testing
GeneDx RCV000406838 SCV000329064 pathogenic not provided 2018-05-18 criteria provided, single submitter clinical testing The c.1903_1907delAAACA pathogenic variant in the ANKRD11 gene has been reported previously as a de novo occurrence in multiple unrelated individuals with KBG syndrome (Ockeloen et al., 2015; Walz et al., 2015; Goldenberg et al., 2016). The c.1903_1907delAAACA variant causes a frameshift starting with codon Lysine 635, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 26 of the new reading frame, denoted p.Lys635GlnfsX26. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1903_1907delAAACA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1903_1907delAAACA as a pathogenic variant
GeneReviews RCV000496332 SCV000778368 pathogenic KBG syndrome 2017-12-01 no assertion criteria provided literature only
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000496332 SCV000745884 pathogenic KBG syndrome 2015-11-04 no assertion criteria provided clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496332 SCV000586701 pathogenic KBG syndrome 2017-08-01 criteria provided, single submitter clinical testing De novo LOF variant in a patient with feeding difficulties, short stature, microcephaly, moderate to severe ID, facial freckling.

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.