BMP1 c.2575+8C>A
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00667%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +8 | near-intronic (+8 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.82 | GERP -5 |
| Non-coding constraint | Z 2.87 | 1 kb window · o/e 0.80 · regional · uncalibrated |
| Overall | ||
| CADD | 0.666 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00667%
Admixed American · 4/60,008 alleles
Filtering AF
0.00226%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00135%
Overall
0.000372%
6/1,611,962 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00667% | 15,002 |
| South Asian | 0.0011% | 91,050 |
| European (non-Finnish) | 8.48e-05% | 1,179,270 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- BMP1
- Coding
- c.2575+8C>A
- MANE Select
- NM_006129
- dbSNP
- rs201856970
- Type
- single nucleotide variant
- Location
- chr8:22207524 (GRCh38)
- Gene constraint
- LOEUF 0.648 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.89 · 8 PDB
Similar variants
- BMP1 p.Cys183Ter Pathogenic/Likely pathogenic ★★ same type
- BMP1 p.Gln70Ter Pathogenic/Likely pathogenic ★★ same type
- BMP1 c.1443+6T>C Uncertain significance ★★ same type
- BMP1 c.1639+4C>G Uncertain significance ★★ same type
- BMP1 c.2233+4C>T Uncertain significance ★★ same type
- BMP1 c.*452A>C Uncertain significance ★★ same type
- BMP1 p.Ala538Val Uncertain significance ★★ ⚠ same type
- BMP1 p.Ala657Thr Uncertain significance ★★ ⚠ 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-c-2575-plus-8c-a (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown