BMP15 p.His337=
c.1011C>T · rs151223850 · VCV368541
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.17%, afr)
Conditions
1
ovarian dysgenesis 2
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 -10 | GERP -3.7 |
| Overall | ||
| CADD | 0.01 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.17%
African / African-American · 669/56,983 alleles
Filtering AF
1.1%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.07%
Overall
0.0934%
1,129/1,208,690 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.17% | 85 |
| Amishnot grpmax-eligible | 0.292% | 342 |
| Ashkenazi Jewishnot grpmax-eligible | 0.245% | 408 |
| Remaining individualsnot grpmax-eligible | 0.116% | 865 |
| Admixed American | 0.0811% | 1,233 |
| Middle Eastern | 0.0459% | 2,177 |
| South Asian | 0.0424% | 2,361 |
| European (non-Finnish) | 0.0312% | 3,206 |
| East Asian | 0.0089% | 11,232 |
| Finnishnot grpmax-eligible | 0.0086% | 11,632 |
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
- BMP15
- Protein
- p.His337=
- Coding
- c.1011C>T
- MANE Select
- NM_005448
- dbSNP
- rs151223850
- Type
- single nucleotide variant
- Location
- chrX:50916439 (GRCh38)
- Structure
- AlphaFold pLDDT 72.64
- Residue 337
- a disulfide bond
Similar variants
- BMP15 p.His337Asn Uncertain significance ★ ⚠ same residue
- BMP15 p.Gly271Cys Uncertain significance ★★ ⚠ same condition
- BMP15 c.-9C>G Benign ★★ same condition
- BMP15 c.*13G>A Benign ★★ same condition
- BMP15 p.Asn103Ser Benign ★★ same condition
- BMP15 p.Gly54= Benign/Likely benign ★★ same condition
- BMP15 p.Leu148Pro Benign/Likely benign ★★ ⚠ same condition
- BMP15 p.Phe194Ser Benign/Likely benign ★★ ⚠ 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/bmp15-p-his337 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown