AMPD2 c.2138T>C
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
AMPD2-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- AMPD2
- Coding
- c.2138T>C
- MANE Select
- NM_001368809 · reported on NM_001257360
- Type
- single nucleotide variant
- Gene constraint
- LOEUF 0.705 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.28 · 5 PDB
Disease context
AMPD2-related disorder
Similar variants
- AMPD2 p.Glu450Ter Pathogenic ★ same condition
- AMPD2 p.Glu92Ter Likely pathogenic ★ same condition
- AMPD2 c.1633G>A Uncertain significance ★ same condition
- AMPD2 c.743T>C Uncertain significance ★ same condition
- AMPD2 p.Cys288= Likely benign same condition
- AMPD2 p.Glu343= Likely benign same condition
- AMPD2 p.Leu421= Likely benign same condition
- AMPD2 c.1698+1G>A Pathogenic/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/ampd2-c-2138t-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown