MYBPC3 c.(?_2906
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hypertrophic cardiomyopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- MYBPC3
- Coding
- c.(?_2906
- MANE Select
- NM_000256
- Type
- Deletion
- Location
- chr11:None (GRCh38)
- Gene constraint
- LOEUF 0.915 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 79.43 · 17 PDB
Similar variants
- MYBPC3 c.1227-39_1263del Likely pathogenic ★★ same condition
- MYBPC3 c.1235_1236delTT Pathogenic ★★ same condition
- MYBPC3 c.1404delG Pathogenic/Likely pathogenic ★★ same condition
- MYBPC3 c.1792delG Pathogenic ★★ same condition
- MYBPC3 c.1800delA Pathogenic ★★ same condition
- MYBPC3 c.2149-2del Pathogenic ★★ same condition
- MYBPC3 c.2291_2308+3del Likely pathogenic ★★ same condition
- MYBPC3 c.2994+1del 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/mybpc3-c-2906 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown