CISD2 c.(104_304
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Wolfram syndrome 2
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- CISD2
- Coding
- c.(104_304
- MANE Select
- NM_001008388
- Type
- Deletion
- Location
- chr4:None (GRCh38)
- Gene constraint
- LOEUF 0.437 · pLI 0.97 (gnomAD)
- Structure
- AlphaFold pLDDT 90.19 · 4 PDB
Disease context
Wolfram syndrome 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Wolfram syndrome (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Adult, Childhood
- Prevalence
- 1-9 / 1 000 000 (United Kingdom)
Similar variants
- CISD2 c.103+6C>A Uncertain significance ★★ same condition
- CISD2 p.Arg57Cys Uncertain significance ★★ ⚠ same condition
- CISD2 p.Arg57His Uncertain significance ★★ ⚠ same condition
- CISD2 p.Asn87Ser Uncertain significance ★★ ⚠ same condition
- CISD2 p.Glu4Gln Uncertain significance ★★ ⚠ same condition
- CISD2 p.Pro61Leu Uncertain significance ★★ ⚠ same condition
- CISD2 p.Pro80Leu Uncertain significance ★★ ⚠ same condition
- CISD2 p.Thr28Ile Uncertain significance ★★ ⚠ 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/cisd2-c-104-304 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown