OPA1 c.985del
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 11 | GERP 2.2, phastCons 1 |
| Non-coding constraint | Z 1.31 | 1 kb window · o/e 0.91 · regional · uncalibrated |
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
- OPA1
- Coding
- c.985del
- MANE Select
- NM_130837 · reported on NM_015560
- dbSNP
- rs2109039412
- Type
- Deletion
- Location
- chr3:193642764 (GRCh38)
- Gene constraint
- LOEUF 0.503 · pLI 0.92 (gnomAD)
- Structure
- AlphaFold pLDDT 74.02 · 11 PDB
Similar variants
- OPA1 c.1377_1377+4del Pathogenic/Likely pathogenic ★★ same type
- OPA1 c.2012+4_2012+7del Pathogenic/Likely pathogenic ★★ same type
- OPA1 c.2873_2876del Pathogenic/Likely pathogenic ★★ same type
- OPA1 c.2885_2983+8del Pathogenic/Likely pathogenic ★★ same type
- OPA1 c.2984-1_2986del Pathogenic/Likely pathogenic ★★ same type
- OPA1 p.Asp266fs Pathogenic ★★ same type
- OPA1 p.Gln714fs Likely pathogenic ★★ same type
- OPA1 p.His686fs 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/opa1-c-985del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown