CIB2 p.Ile60fs
c.177del · VCV4926085
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
CIB2-related disorders
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 3 of 6 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.1 | GERP -0.64, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CIB2
- Protein
- p.Ile60fs
- Coding
- c.177del
- MANE Select
- NM_006383
- Type
- Deletion
- Location
- chr15:78111186 (GRCh38)
- Gene constraint
- LOEUF 1.274 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.71 · 1 PDB
- Residue 60
- a UniProt-annotated variant site (in dfnb48)
Disease context
CIB2-related disorders
Similar variants
- CIB2 p.Glu100fs Pathogenic/Likely pathogenic ★★ same condition
- CIB2 p.Glu105fs Pathogenic/Likely pathogenic ★★ same condition
- CIB2 p.Ser101fs Pathogenic/Likely pathogenic ★★ same condition
- CIB2 p.Arg104Ter Pathogenic/Likely pathogenic ★★ same condition
- CIB2 p.Arg33Ter Pathogenic ★★ same condition
- CIB2 c.198+1G>A Likely pathogenic ★ same condition
- CIB2 c.199-125G>A Likely pathogenic ★ same condition
- CIB2 p.Lys4Ter Likely pathogenic ★ same condition
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/cib2-p-ile60fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown