DYNC2LI1 p.Arg107fs
c.318dup · rs2467047424 · VCV2030462
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 2.4, phastCons 0.99 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- DYNC2LI1
- Protein
- p.Arg107fs
- Coding
- c.318dup
- MANE Select
- NM_016008
- dbSNP
- rs2467047424
- Type
- Duplication
- Location
- chr2:43789718 (GRCh38)
- Gene constraint
- LOEUF 1.028 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.49 · 3 PDB
Similar variants
- DYNC2LI1 p.Leu173fs Pathogenic ★ same type
- DYNC2LI1 c.126+18dup Benign ★ same type
- DYNC2LI1 c.162-5dup Likely benign ★ same type
- DYNC2LI1 c.802+13dup Likely benign ★ same type
- DYNC2LI1 c.900+172dup 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/dync2li1-p-arg107fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown