BMP15 p.Met1fs
c.-49_*34del · VCV973167
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
ovarian dysgenesis 2
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 1 of 2 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.32 | GERP -3.7 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BMP15
- Protein
- p.Met1fs
- Coding
- c.-49_*34del
- MANE Select
- NM_005448
- Type
- Deletion
- Location
- chrX:50910735 (GRCh38)
- Structure
- AlphaFold pLDDT 72.64
Similar variants
- BMP15 p.Trp155fs Likely pathogenic same condition
- 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.His337= Benign ★★ same condition
- BMP15 p.Leu148Pro 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-met1fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown