DYNC2I2 p.Arg447Leu
c.1340_1341delinsTA · rs1860309810 · VCV869424
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
short-rib thoracic dysplasia 11 with or without polydactyly
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 -0.66 | GERP -3 |
| Regional constraint | o/e 1.02 | unconstrained · MANE · 23 kb · p 0.59 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DYNC2I2
- Protein
- p.Arg447Leu
- Coding
- c.1340_1341delinsTA
- MANE Select
- NM_052844
- dbSNP
- rs1860309810
- Type
- Indel
- Location
- chr9:128634257 (GRCh38)
- Gene constraint
- LOEUF 1.036 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.66 · 4 PDB
- Residue 447
- a UniProt-annotated variant site (in srtd11)
Similar variants
- DYNC2I2 p.Arg447Trp Pathogenic/Likely pathogenic ★★ same residue
- DYNC2I2 p.Arg447Gln Pathogenic ★ same residue
- DYNC2I2 p.Glu116Val Uncertain significance ★ same condition
- DYNC2I2 p.Gly36Leu Conflicting classifications of pathogenicity ★ same condition
- DYNC2I2 c.1372+1G>A Pathogenic/Likely pathogenic ★★ same condition
- DYNC2I2 p.Arg121Ter Pathogenic ★★ same condition
- DYNC2I2 p.Arg182Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- DYNC2I2 p.Glu368fs Pathogenic/Likely 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/dync2i2-p-arg447leu (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown