ABCD1 p.Glu52fs
c.154dup · VCV3353509
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
ABCD1-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -5.3 | GERP -3.1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCD1
- Protein
- p.Glu52fs
- Coding
- c.154dup
- MANE Select
- NM_000033
- Type
- Duplication
- Location
- chrX:153725416 (GRCh38)
- Structure
- AlphaFold pLDDT 81.58 · 14 PDB
Disease context
ABCD1-related disorder
Similar variants
- ABCD1 p.Arg85fs Pathogenic ★★ same condition
- ABCD1 p.Glu52Ter Pathogenic ★ same residue
- ABCD1 c.1781-1G>T Pathogenic/Likely pathogenic ★★ same condition
- ABCD1 c.1866-2A>T Likely pathogenic ★★ same condition
- ABCD1 c.901-5C>A Likely pathogenic ★★ same condition
- ABCD1 p.Arg104His Pathogenic/Likely pathogenic ★★ same condition
- ABCD1 p.Arg152Cys Pathogenic/Likely pathogenic ★★ same condition
- ABCD1 p.Arg163Cys Pathogenic/Likely pathogenic ★★ same condition
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/abcd1-p-glu52fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown