ACADSB c.1128+287C>G
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 100%, mid) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +287 | deep intronic (+287 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.3 | GERP -1.3, phastCons 0.002 |
| Overall | ||
| CADD | 0.175 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
100%
Middle Eastern · 294/294 alleles
Filtering AF
98.8%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 98.5%
Overall
98.3%
149,458/152,006 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 100% | 1 |
| Ashkenazi Jewishnot grpmax-eligible | 99.7% | 1 |
| African / African-American | 99.6% | 1 |
| Finnishnot grpmax-eligible | 99.2% | 1 |
| Remaining individualsnot grpmax-eligible | 98.7% | 1 |
| European (non-Finnish) | 98.3% | 1 |
| South Asian | 98.3% | 1 |
| Admixed American | 98.1% | 1 |
| Amishnot grpmax-eligible | 95.8% | 1 |
| East Asian | 86.1% | 1 |
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
- ACADSB
- Coding
- c.1128+287C>G
- MANE Select
- NM_001609
- dbSNP
- rs1898461
- Type
- single nucleotide variant
- Location
- chr10:123051473 (GRCh38)
- Gene constraint
- LOEUF 0.891 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 91.47 · 1 PDB
Similar variants
- ACADSB c.1128+1G>A Likely pathogenic ★★ same type
- ACADSB c.1228+1G>A Likely pathogenic ★★ same type
- ACADSB c.303+3A>G Pathogenic/Likely pathogenic ★★ same type
- ACADSB p.Cys308Tyr Pathogenic/Likely pathogenic ★★ same type
- ACADSB p.Gln99Ter Pathogenic/Likely pathogenic ★★ same type
- ACADSB p.Glu387Lys Pathogenic/Likely pathogenic ★★ ⚠ same type
- ACADSB p.Gly410Ser Pathogenic/Likely pathogenic ★★ ⚠ same type
- ACADSB p.Met389Val 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/acadsb-c-1128-plus-287c-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown