CIC p.Tyr2005Lys
c.6013_6015delinsAAA · VCV3907939
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 1.7, phastCons 1 |
Variant & gene context
- Gene
- CIC
- Protein
- p.Tyr2005Lys
- Coding
- c.6013_6015delinsAAA
- MANE Select
- NM_005984 · reported on NM_001386298
- Type
- Indel
- Location
- chr19:42292676 (GRCh38)
- Structure
- AlphaFold pLDDT 75.09
Similar variants
- CIC p.Glu985fs Likely pathogenic ★ same type
- CIC p.Thr1661fs Likely pathogenic ★ same type
- SLC25A1 p.Asn219_Ile222delinsLysThrSer Likely pathogenic ★ same type
- CIC c.4088-8_4088-7delinsAA Uncertain significance ★ same type
- CIC p.Ala2407Gly Uncertain significance ★ same type
- CIC p.Pro711_Glu717delinsThrMet Likely benign ★ 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-tyr2005lys (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown