CIC p.Ala1975fs
c.5923dup · VCV4856837
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen); NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CIC
- Protein
- p.Ala1975fs
- Coding
- c.5923dup
- MANE Select
- NM_005984 · reported on NM_001386298
- Type
- Duplication
- Location
- chr19:42292584 (GRCh38)
- Structure
- AlphaFold pLDDT 75.09
Similar variants
- CIC p.Ala1975Gly Uncertain significance ★★ ⚠ same residue
- CIC p.Pro2483_Leu2484insGlnAlaAlaProPro Uncertain significance ★★ same type
- CIC p.Pro2507fs Uncertain significance ★★ same type
- CIC p.Arg688fs Pathogenic ★ same type
- CIC p.Asp2349fs Pathogenic ★ same type
- CIC p.Cys397fs Likely pathogenic ★ same type
- CIC p.Gly1425fs Pathogenic ★ same type
- CIC p.Gly1628fs 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/cic-p-ala1975fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown