TYMP c.1069A>G
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
mitochondrial DNA depletion syndrome 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- TYMP
- Coding
- c.1069A>G
- MANE Select
- NM_001953
- Type
- Variation
- Gene constraint
- LOEUF 1.518 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 92.82 · 4 PDB
Disease context
mitochondrial DNA depletion syndrome 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Mitochondrial neurogastrointestinal encephalomyopathy (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Adult, Childhood
- Prevalence
- 1-9 / 1 000 000 (Europe)
Similar variants
- TYMP c.52_53delCT Pathogenic same condition
- TYMP c.972T>C Benign same condition
- TYMP c.1301-1G>A Likely pathogenic ★★ same condition
- TYMP c.214+1G>T Likely pathogenic ★★ same condition
- TYMP c.417+1G>A Pathogenic ★★ same condition
- TYMP c.418-1G>A Likely pathogenic ★★ same condition
- TYMP c.646+1G>A Pathogenic/Likely pathogenic ★★ same condition
- TYMP c.647-1G>A 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/tymp-c-1069a-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown