DYNC2I2 p.Glu116Val
c.347_348delinsTT · rs2542445887 · VCV2086046
Uncertain significance
Single submitter
Classification
Uncertain significance
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 1.3 | GERP -0.63, phastCons 1 |
| 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.Glu116Val
- Coding
- c.347_348delinsTT
- MANE Select
- NM_052844
- dbSNP
- rs2542445887
- Type
- Indel
- Location
- chr9:128640778 (GRCh38)
- Gene constraint
- LOEUF 1.036 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.66 · 4 PDB
- Residue 116
- the 'dynlrb1 binding' region
Similar variants
- DYNC2I2 p.Glu116fs Pathogenic ★ same residue
- DYNC2I2 p.Arg447Leu Likely pathogenic ★ same condition
- DYNC2I2 p.Glu116Asp Uncertain significance ★ ⚠ same residue
- 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.Arg447Trp 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-glu116val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown