EXT2 p.Lys302fs
c.905del · VCV3347568
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
EXT2-related disorder
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 5 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.18 | GERP -1.2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EXT2
- Protein
- p.Lys302fs
- Coding
- c.905del
- MANE Select
- NM_207122
- Type
- Deletion
- Location
- chr11:44124949 (GRCh38)
- Gene constraint
- LOEUF 0.775 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 87.59 · 6 PDB
- Residue 302
- a β-strand
Disease context
EXT2-related disorder
Similar variants
- EXT2 p.Gln382fs Pathogenic ★★ same condition
- EXT2 p.Lys302Asn Uncertain significance ★★ ⚠ same residue
- EXT2 c.743+1del Likely pathogenic ★ same condition
- EXT2 p.Glu387fs Likely pathogenic ★ same condition
- EXT2 p.Gly215fs Likely pathogenic ★ same condition
- EXT2 p.Pro231fs Pathogenic ★ same condition
- EXT2 c.1173+1G>A Pathogenic ★★ same condition
- EXT2 c.744-2A>C 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-lys302fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown