BMP1 p.Pro613fs
c.1838_1872del · VCV3652773
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 14 of 20 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BMP1
- Protein
- p.Pro613fs
- Coding
- c.1838_1872del
- MANE Select
- NM_006129
- Type
- Deletion
- Location
- chr8:22196747 (GRCh38)
- Gene constraint
- LOEUF 0.648 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.89 · 8 PDB
- Residue 613
- a disulfide bond; the cub 3 domain
Similar variants
- BMP1 p.Pro613His Uncertain significance ★★ ⚠ same residue
- BMP1 p.Pro613Arg Uncertain significance ★ ⚠ same residue
- BMP1 p.Pro613Leu Uncertain significance ★ ⚠ same residue
- BMP1 p.Pro613= Likely benign ★ same residue
- BMP1 p.Gly12_Leu15del Pathogenic ★★ same type
- BMP1 c.2108-702_2108-700del Likely benign ★★ same type
- BMP1 c.2233+17del Benign/Likely benign ★★ same type
- BMP1 c.1279_1297+3del Likely 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/bmp1-p-pro613fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown