CCNQ p.Glu17fs
c.47dup · VCV3393276
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
syndactyly-telecanthus-anogenital and renal malformations syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 5 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.8 | GERP -2.1 |
| Region caveats | ||
| Repeat context | tandem | (CGGCCGC)n simple repeat · ambiguous alignment · confidence, not pathogenicity |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CCNQ
- Protein
- p.Glu17fs
- Coding
- c.47dup
- MANE Select
- NM_152274
- Type
- Duplication
- Location
- chrX:153599026 (GRCh38)
- Structure
- AlphaFold pLDDT 88.81
- Residue 17
- the 'disordered' region
Similar variants
- CCNQ p.Asn102Ter Pathogenic same condition
- CCNQ p.Trp217Ter Likely pathogenic ★ same condition
- CCNQ c.657+1G>A Pathogenic same condition
- CCNQ c.658-1G>A Pathogenic same condition
- CCNQ p.Gln19fs Benign ★★ same type
- CCNQ p.Gly7fs Benign ★★ same type
- CCNQ p.Ala66fs Likely pathogenic ★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ccnq-p-glu17fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown