CNNM2 p.Ile435del
c.1300ATC[1] · VCV4819658
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hypomagnesemia, seizures, and intellectual disability 1
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, phastCons 1 |
Variant & gene context
- Gene
- CNNM2
- Protein
- p.Ile435del
- Coding
- c.1300ATC[1]
- MANE Select
- NM_017649
- Type
- Microsatellite
- Location
- chr10:102919779 (GRCh38)
- Gene constraint
- LOEUF 0.312 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 71.70 · 7 PDB
- Residue 435
- an α-helix
Similar variants
- CNNM2 p.Ala19fs Likely pathogenic ★ same condition
- CNNM2 p.Leu739del Uncertain significance ★ same condition
- CNNM2 p.Ile435= Likely benign ★ same residue
- CNNM2 p.Leu321del Pathogenic same condition
- CNNM2 p.Arg602Ter Likely pathogenic ★★ same condition
- CNNM2 p.Glu122Lys Pathogenic/Likely pathogenic ★★ same condition
- CNNM2 p.Glu357Lys Pathogenic ★★ same condition
- CNNM2 p.Ser269Trp 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/cnnm2-p-ile435del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown