BMPR1A p.Lys115Phe
c.343_345inv · VCV1471161
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
juvenile polyposis syndrome
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 2.7, phastCons 1 |
| Regional constraint | o/e 0.66 | unconstrained · MANE · 27 kb · p 2.2e-08 · regional, not allelic |
Variant & gene context
- Gene
- BMPR1A
- Protein
- p.Lys115Phe
- Coding
- c.343_345inv
- MANE Select
- NM_004329
- Type
- Inversion
- Location
- chr10:86899803 (GRCh38)
- Gene constraint
- LOEUF 0.195 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 82.86 · 11 PDB
Disease context
juvenile polyposis syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Juvenile polyposis syndrome (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adolescent, Adult, Childhood, Infancy
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- BMPR1A p.Lys115= Likely benign ★★ same residue
- BMPR1A c.1166+1G>A Likely pathogenic ★★ same condition
- BMPR1A c.1343-2A>G Likely pathogenic ★★ same condition
- BMPR1A c.1473+1G>A Pathogenic/Likely pathogenic ★★ same condition
- BMPR1A c.1473+1G>C Pathogenic/Likely pathogenic ★★ same condition
- BMPR1A c.230+1G>A Likely pathogenic ★★ same condition
- BMPR1A c.333+1G>A Likely pathogenic ★★ same condition
- BMPR1A c.430+1G>A 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/bmpr1a-p-lys115phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown