DYNC2H1 p.Ala3499Phe
c.10495_10496delinsTT · rs2135267286 · VCV1390067
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
Jeune syndrome
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 9.7 | GERP 1.9, phastCons 1 |
| Regional constraint | o/e 0.98 | unconstrained · MANE · 293 kb · p 0.28 · 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
- DYNC2H1
- Protein
- p.Ala3499Phe
- Coding
- c.10495_10496delinsTT
- MANE Select
- NM_001377
- dbSNP
- rs2135267286
- Type
- Indel
- Location
- chr11:103257641 (GRCh38)
- Gene constraint
- LOEUF 0.859 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Residue 3499
- an α-helix
Similar variants
- DYNC2H1 p.Ala3499= Likely benign ★ same residue
- DYNC2H1 p.Tyr2715_Gln2716delinsTer Pathogenic/Likely pathogenic ★★ same condition
- DYNC2H1 c.12366+7_12366+8delinsAG Likely benign ★★ same condition
- DYNC2H1 p.Pro2820_Glu2821delinsThrTer Pathogenic ★ same condition
- DYNC2H1 p.Ala3680Val Likely benign ★ same condition
- DYNC2H1 c.10042+2T>G Pathogenic/Likely pathogenic ★★ same condition
- DYNC2H1 c.10462-2A>G Likely pathogenic ★★ same condition
- DYNC2H1 c.10606-14A>G 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/dync2h1-p-ala3499phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown