ACBD6 p.Glu152=
c.456A>G · rs189730262 · VCV3058365
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.165%, mid)
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 4.9 | GERP -1.2, phastCons 1 |
| Overall | ||
| CADD | 10.63 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.165%
Middle Eastern · 10/6,054 alleles
Filtering AF
0.0896%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0681%
Overall
0.011%
178/1,613,012 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.165% | 605 |
| Admixed American | 0.03% | 3,334 |
| Remaining individualsnot grpmax-eligible | 0.024% | 4,165 |
| South Asian | 0.0121% | 8,278 |
| European (non-Finnish) | 0.01% | 9,994 |
| African / African-American | 0.00666% | 15,006 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,578 |
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
- ACBD6
- Protein
- p.Glu152=
- Coding
- c.456A>G
- MANE Select
- NM_032360
- dbSNP
- rs189730262
- Type
- single nucleotide variant
- Location
- chr1:180430191 (GRCh38)
- Gene constraint
- LOEUF 1.037 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.80 · 1 PDB
- Residue 152
- a UniProt-annotated variant site (in nedpm; pathogenic)
Similar variants
- LHX4 p.Asp152Glu Uncertain significance ★ ⚠ same residue
- LHX4 c.*17C>T Uncertain significance ★★ same type
- LHX4 p.Ala354Val Uncertain significance ★★ ⚠ same type
- LHX4 p.Arg161Gln Uncertain significance ★★ ⚠ same type
- LHX4 p.Gly283Arg Uncertain significance ★★ ⚠ same type
- LHX4 p.His387Gln Uncertain significance ★★ ⚠ same type
- LHX4 p.Leu338Trp Uncertain significance ★★ ⚠ same type
- LHX4 p.Met286Thr 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/acbd6-p-glu152 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown