BMPR1A p.Ser113fs
c.338del · rs2539489295 · VCV2006853
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 6 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 2.7, phastCons 1 |
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
- BMPR1A
- Protein
- p.Ser113fs
- Coding
- c.338del
- MANE Select
- NM_004329
- dbSNP
- rs2539489295
- Type
- Deletion
- Location
- chr10:86899798 (GRCh38)
- Gene constraint
- LOEUF 0.195 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 82.86 · 11 PDB
- Residue 113
- a disulfide bond
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 c.676delG Pathogenic/Likely pathogenic ★★ same condition
- BMPR1A p.Arg152fs Pathogenic ★★ same condition
- BMPR1A p.Glu256fs Pathogenic ★★ same condition
- BMPR1A p.Glu276fs Pathogenic ★★ same condition
- BMPR1A p.Glu45fs Pathogenic ★★ same condition
- BMPR1A p.Gly92fs Pathogenic ★★ same condition
- BMPR1A p.His312fs Pathogenic ★★ same condition
- BMPR1A p.Leu15fs 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-ser113fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown