CCT2 p.Glu350fs
c.1048del · VCV3656050
Uncertain significance
Single submitter
Classification
Uncertain significance
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 LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 11 of 16 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.046 | GERP -3.3, phastCons 0.96 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CCT2
- Protein
- p.Glu350fs
- Coding
- c.1048del
- MANE Select
- NM_006431
- Type
- Deletion
- Location
- chr12:69597221 (GRCh38)
- Gene constraint
- LOEUF 0.445 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 89.85 · 71 PDB
- Residue 350
- a β-strand
Similar variants
- CCT2 p.Glu350Gly Uncertain significance ★ ⚠ same residue
- CCT2 c.1232-3del Uncertain significance ★ same type
- CCT2 p.Lys276fs Uncertain significance ★ same type
- CCT2 p.Pro229fs Uncertain significance ★ same type
- CCT2 c.1436-8_1436-6del Likely benign ★ same type
- CCT2 c.144+22_144+40del Benign ★ same type
- CCT2 c.1577+15_1577+16del Likely benign ★ same type
- CCT2 c.4-8del 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/cct2-p-glu350fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown