CNNM2 p.Val353del
c.1057_1059del · VCV3369040
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 9.4 | GERP 0.53, phastCons 1 |
Variant & gene context
- Gene
- CNNM2
- Protein
- p.Val353del
- Coding
- c.1057_1059del
- MANE Select
- NM_017649
- Type
- Deletion
- Location
- chr10:102919535 (GRCh38)
- Gene constraint
- LOEUF 0.312 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 71.70 · 7 PDB
- Residue 353
- the cnnm transmembrane domain
Similar variants
- CNNM2 p.Val353= Likely benign ★ same residue
- CNNM2 p.Ala92fs Pathogenic ★★ same type
- CNNM2 p.Glu298del Uncertain significance ★★ same type
- CNNM2 p.Lys429del Uncertain significance ★★ same type
- CNNM2 c.1621+288del Likely benign ★★ same type
- CNNM2 c.1621+7026_1621+7029del Benign ★★ same type
- CNNM2 c.1766-17_1766-15del Likely benign ★★ same type
- CNNM2 p.Glu646fs 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/cnnm2-p-val353del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown