ABCD1 p.Cys717fs
c.2149_2231del · VCV3573889
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 | escapes | premature termination codon in the last exon (10 of 10) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.7 | GERP -3.5, phastCons 1 |
| Region caveats | ||
| Repeat context | seg dup | · reads may not map uniquely · confidence, not pathogenicity |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCD1
- Protein
- p.Cys717fs
- Coding
- c.2149_2231del
- MANE Select
- NM_000033
- Type
- Deletion
- Location
- chrX:153743643 (GRCh38)
- Structure
- AlphaFold pLDDT 81.58 · 14 PDB
- Residue 717
- the 'required for homodimerization' region; an α-helix
Similar variants
- ABCD1 c.1394-2_1404del Pathogenic/Likely pathogenic ★★ same type
- ABCD1 c.901-48_909del Pathogenic/Likely pathogenic ★★ same type
- ABCD1 p.Ala241fs Pathogenic ★★ same type
- ABCD1 p.Arg80_Leu82del Pathogenic/Likely pathogenic ★★ same type
- ABCD1 p.Gln472fs Pathogenic ★★ same type
- ABCD1 p.Gln645fs Pathogenic/Likely pathogenic ★★ same type
- ABCD1 p.Glu371fs Pathogenic/Likely pathogenic ★★ same type
- ABCD1 p.Glu477fs 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/abcd1-p-cys717fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown