BMPR2 p.Cys288fs
c.862dup · rs2469740327 · VCV2136061
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -6.1 | GERP -4.9 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- BMPR2
- Protein
- p.Cys288fs
- Coding
- c.862dup
- MANE Select
- NM_001204
- dbSNP
- rs2469740327
- Type
- Duplication
- Location
- chr2:202520095 (GRCh38)
- Gene constraint
- LOEUF 0.376 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 58.07 · 7 PDB
- Residue 288
- a UniProt-annotated variant site (in pph1; changed localization to the plasma membrane); the protein kinase domain; an α-helix
Similar variants
- BMPR2 p.Cys288Ter Pathogenic ★ same residue
- BMPR2 p.Cys288Arg Uncertain significance ★ ⚠ same residue
- BMPR2 c.529+2dup Likely pathogenic ★★★ same type
- BMPR2 p.Asn583fs Pathogenic/Likely pathogenic ★★ same type
- BMPR2 p.Gly63fs Pathogenic ★★ same type
- BMPR2 c.853-21dup Likely benign ★★ same type
- BMPR2 p.Arg381fs Pathogenic ★ same type
- BMPR2 p.Arg491fs 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/bmpr2-p-cys288fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown