BMPR2 c.967+17A>C
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +17 | near-intronic (+17 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.3 | GERP 0.58, phastCons 0.015 |
| Overall | ||
| CADD | 5.757 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- BMPR2
- Coding
- c.967+17A>C
- MANE Select
- NM_001204
- dbSNP
- rs2106008516
- Type
- single nucleotide variant
- Location
- chr2:202520218 (GRCh38)
- Gene constraint
- LOEUF 0.376 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 58.07 · 7 PDB
Similar variants
- BMPR2 c.1276+3A>G Likely pathogenic ★★★ same type
- BMPR2 c.1276+3A>T Likely pathogenic ★★★ same type
- BMPR2 c.1276+4A>G Likely pathogenic ★★★ same type
- BMPR2 c.1277-8A>G Pathogenic ★★★ same type
- BMPR2 c.1277-9A>G Pathogenic ★★★ same type
- BMPR2 c.1413+1G>A Pathogenic ★★★ same type
- BMPR2 c.247+1G>A Likely pathogenic ★★★ same type
- BMPR2 c.247+5G>A 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/bmpr2-c-967-plus-17a-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown