BMP7 p.Glu93=
c.279G>A · rs61733434 · VCV1259066
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 9.05%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.9 | GERP -0.4, phastCons 1 |
| Overall | ||
| CADD | 13.15 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
9.05%
African / African-American · 6,784/74,964 alleles
Filtering AF
8.87%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 8.8%
Overall
0.494%
7,939/1,607,090 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 9.05% | 11 |
| Admixed American | 0.683% | 146 |
| Remaining individualsnot grpmax-eligible | 0.577% | 173 |
| Middle Eastern | 0.297% | 336 |
| European (non-Finnish) | 0.0309% | 3,234 |
| South Asian | 0.0101% | 9,931 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0034% | 29,418 |
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
- BMP7
- Protein
- p.Glu93=
- Coding
- c.279G>A
- MANE Select
- NM_001719
- dbSNP
- rs61733434
- Type
- single nucleotide variant
- Location
- chr20:57265844 (GRCh38)
- Gene constraint
- LOEUF 0.523 · pLI 0.96 (gnomAD)
- Structure
- AlphaFold pLDDT 76.50 · 4 PDB
Similar variants
- BMP7 p.Arg150His Uncertain significance ★★ ⚠ same type
- BMP7 p.Arg267Gln Uncertain significance ★★ ⚠ same type
- BMP7 p.His241Tyr Uncertain significance ★★ ⚠ same type
- BMP7 p.Ile386Val Uncertain significance ★★ ⚠ same type
- BMP7 p.Leu160Phe Uncertain significance ★★ same type
- BMP7 p.Pro116Ser Uncertain significance ★★ ⚠ same type
- BMP7 p.Ser248Leu Uncertain significance ★★ ⚠ same type
- BMP7 p.Thr251Met 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/bmp7-p-glu93 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown