BMPR2 c.(?_-1
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
pulmonary hypertension, primary, 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- BMPR2
- Coding
- c.(?_-1
- MANE Select
- NM_001204
- Type
- Deletion
- Location
- chr2:None (GRCh38)
- Gene constraint
- LOEUF 0.376 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 58.07 · 7 PDB
Similar variants
- BMPR2 c.247+1_247+7del Likely pathogenic ★★★ same condition
- BMPR2 c.247+2del Likely pathogenic ★★★ same condition
- BMPR2 p.Asn861fs Pathogenic ★★ same condition
- BMPR2 p.Gly390fs Pathogenic/Likely pathogenic ★★ same condition
- BMPR2 p.Lys230fs Pathogenic ★★ same condition
- BMPR2 p.Phe773fs Pathogenic ★★ same condition
- BMPR2 p.Pro366fs Pathogenic ★★ same condition
- BMPR2 c.1125_1128+16del 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/bmpr2-c-minus-1 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown