BMPR1B p.Phe145=
c.435T>C · VCV4822039
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00476%, nfe)
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 1.4 | GERP -2.1, phastCons 1 |
| Overall | ||
| CADD | 8.794 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00476%
European (non-Finnish) · 56/1,177,398 alleles
Filtering AF
0.00376%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00337%
Overall
0.00348%
56/1,609,912 alleles · very rare
exomes 56/1,457,664 · genomes 0/152,248 · joint denominator
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
- BMPR1B
- Protein
- p.Phe145=
- Coding
- c.435T>C
- MANE Select
- NM_001203
- Type
- single nucleotide variant
- Location
- chr4:95123895 (GRCh38)
- Gene constraint
- LOEUF 0.331 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 85.36 · 1 PDB
Similar variants
- BMPR1B c.585+1G>C Likely pathogenic ★★ same type
- BMPR1B p.Arg486Trp Pathogenic ★★ same type
- BMPR1B c.*828T>G Uncertain significance ★★ same type
- BMPR1B c.*83C>G Uncertain significance ★★ same type
- BMPR1B p.Arg214His Uncertain significance ★★ ⚠ same type
- BMPR1B p.Arg26Pro Uncertain significance ★★ ⚠ same type
- BMPR1B p.Arg412Gly Uncertain significance ★★ ⚠ same type
- BMPR1B p.Arg91Ile 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/bmpr1b-p-phe145 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown