BST1 p.Arg145=
c.435A>G · rs75054170 · VCV717839
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.941%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.023 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.58 | GERP -2.1, phastCons 0.87 |
| Overall | ||
| CADD | 5.678 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.941%
African / African-American · 706/75,014 alleles
Filtering AF
0.884%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.861%
Overall
0.0501%
808/1,614,056 alleles · rare
exomes 425/1,461,838 · genomes 383/152,218 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.941% | 106 |
| Middle Eastern | 0.066% | 1,516 |
| Admixed American | 0.0533% | 1,875 |
| Remaining individualsnot grpmax-eligible | 0.0432% | 2,315 |
| European (non-Finnish) | 0.00331% | 30,256 |
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
- BST1
- Protein
- p.Arg145=
- Coding
- c.435A>G
- MANE Select
- NM_004334
- dbSNP
- rs75054170
- Type
- single nucleotide variant
- Location
- chr4:15707630 (GRCh38)
- Gene constraint
- LOEUF 1.638 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.33 · 6 PDB
- Residue 145
- a UniProt-annotated variant site (in)
Similar variants
- BST1 p.Gly239Arg Benign ★★ same type
- BST1 p.Ile101Val Benign ★★ same type
- BST1 p.Ala120Thr Uncertain significance ★ ⚠ same type
- BST1 p.Ala175Ser Uncertain significance ★ ⚠ same type
- BST1 p.Ala175Thr Uncertain significance ★ ⚠ same type
- BST1 p.Ala27Val Uncertain significance ★ ⚠ same type
- BST1 p.Ala2Thr Uncertain significance ★ ⚠ same type
- BST1 p.Ala30Thr 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/bst1-p-arg145 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown