DYNC1H1 p.Thr139fs
c.415dup · VCV3769865
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 78 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP 0.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DYNC1H1
- Protein
- p.Thr139fs
- Coding
- c.415dup
- MANE Select
- NM_001376
- Type
- Duplication
- Location
- chr14:101979388 (GRCh38)
- Gene constraint
- LOEUF 0.117 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Residue 139
- the 'stem' region; a β-strand
Similar variants
- DYNC1H1 p.Thr139= Likely benign ★ same residue
- DYNC1H1 c.11691-14dup Likely benign ★★ same type
- DYNC1H1 c.11941+19_11941+20dup Likely benign ★★ same type
- DYNC1H1 c.13515+19dup Likely benign ★★ same type
- DYNC1H1 c.3804+16dup Likely benign ★★ same type
- DYNC1H1 c.5433+17dup Benign ★★ same type
- DYNC1H1 c.962-15dup Benign ★★ same type
- DYNC1H1 p.Arg3474dup Likely pathogenic ★ 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/dync1h1-p-thr139fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown