Is ABCD1 p.Glu278fs (c.832dup) pathogenic?

ABCD1 p.Glu278fs (c.832dup) is classified Pathogenic in ABCD1 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-07-01). Absent from gnomAD.

How common is ABCD1 p.Glu278fs (c.832dup) in the general population?

ABCD1 p.Glu278fs (c.832dup) is absent from gnomAD (gnomAD).

ABCD1 p.Glu278fs

c.832dup · rs2148389899 · VCV1299210

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 9.3	GERP 1.7, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ABCD1
Protein: p.Glu278fs
Coding: c.832dup
MANE Select: NM_000033
dbSNP: rs2148389899
Type: Duplication
Location: chrX:153726093 (GRCh38)
Structure: AlphaFold pLDDT 81.58 · 14 PDB
Residue 278: an α-helix; the abc transmembrane type-1 domain

Full ABCD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ABCD1 p.Arg80_Leu82dup Pathogenic ★★ same type
ABCD1 p.Arg85fs Pathogenic ★★ same type
ABCD1 p.Arg8fs Likely pathogenic ★★ same type
ABCD1 p.Asn13fs Pathogenic ★★ same type
ABCD1 p.Glu359fs Pathogenic/Likely pathogenic ★★ same type
ABCD1 p.Thr483fs Pathogenic/Likely pathogenic ★★ same type
ABCD1 p.Ala255fs Likely pathogenic ★ same type
ABCD1 p.Ala443fs 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-glu278fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown