Is ABCC2 p.Asp304fs (c.884_902dup) pathogenic?

ABCC2 p.Asp304fs (c.884902dup) is classified Likely pathogenic in ABCC2 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-06-11). Associated with Dubin-Johnson syndrome.

What condition is associated with ABCC2 p.Asp304fs (c.884_902dup)?

ABCC2 p.Asp304fs (c.884_902dup) is associated with Dubin-Johnson syndrome (ClinVar).

How is Dubin-Johnson syndrome inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

ABCC2 p.Asp304fs

c.884_902dup · VCV3589827

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Dubin-Johnson syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 8 of 32
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 8	GERP 2.5, phastCons 1

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

Variant & gene context

Gene: ABCC2
Protein: p.Asp304fs
Coding: c.884_902dup
MANE Select: NM_000392
Type: Duplication
Location: chr10:99799222 (GRCh38)
Gene constraint: LOEUF 0.985 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 81.40 · 16 PDB

Full ABCC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Dubin-Johnson syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Dubin-Johnson syndrome (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Adult

Similar variants

ABCC2 p.Asp1073Ter Pathogenic ★★ same condition
ABCC2 p.Leu1213fs Pathogenic ★★ same condition
ABCC2 p.Lys298fs Pathogenic ★★ same condition
ABCC2 p.Val667fs Pathogenic/Likely pathogenic ★★ same condition
ABCC2 p.Thr1251fs Likely pathogenic ★ same condition
ABCC2 p.Tyr119fs Pathogenic ★ same condition
ABCC2 p.Tyr1309fs Likely pathogenic ★ same condition
ABCC2 p.Asp304= Likely benign ★ same residue

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/abcc2-p-asp304fs (accessed [today's date]).

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