EXT2 p.Gln382fs
c.1144del · VCV3721019
Pathogenic
Multiple submitters
Classification
Pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
EXT2-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 in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 1.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EXT2
- Protein
- p.Gln382fs
- Coding
- c.1144del
- MANE Select
- NM_207122
- Type
- Deletion
- Location
- chr11:44130105 (GRCh38)
- Gene constraint
- LOEUF 0.775 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 87.59 · 6 PDB
- Residue 382
- an α-helix
Similar variants
- EXT2 p.Gln382Ter Pathogenic ★★ same residue
- EXT2 p.Gln382Arg Uncertain significance ★★ ⚠ same residue
- EXT2 c.626+2_626+5del Pathogenic ★★ same condition
- EXT2 p.Val593fs Likely pathogenic ★★ same condition
- EXT2 p.Val68fs Pathogenic ★★ same condition
- EXT2 c.2019-2del Uncertain significance ★★ same condition
- EXT2 c.1806+9del Benign/Likely benign ★★ same condition
- EXT2 c.1080-2del 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/ext2-p-gln382fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown