Is ATP8B1 c.*467G>A pathogenic?

ATP8B1 c.467G>A is classified Uncertain significance in ATP8B1 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-13). No allele count reported in gnomAD v4.1 (AN 280,418); Associated with progressive familial intrahepatic cholestasis type 1.

What condition is associated with ATP8B1 c.*467G>A?

ATP8B1 c.*467G>A is associated with progressive familial intrahepatic cholestasis type 1 (ClinVar).

How common is ATP8B1 c.*467G>A in the general population?

ATP8B1 c.*467G>A is no allele count reported in gnomAD v4.1 (AN 280,418) (gnomAD).

How is Progressive familial intrahepatic cholestasis inherited?

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

ATP8B1 c.*467G>A

rs1909290314 · VCV892268

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 280,418)

Conditions

progressive familial intrahepatic cholestasis type 1

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 -0.092	GERP 0.13, phastCons 0.001
Overall
CADD	2.208	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 280,418). 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: ATP8B1
Coding: c.*467G>A
MANE Select: NM_001374385
dbSNP: rs1909290314
Type: single nucleotide variant
Location: chr18:57648021 (GRCh38)
Gene constraint: LOEUF 0.62 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 80.42 · 13 PDB

Full ATP8B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

progressive familial intrahepatic cholestasis type 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Progressive familial intrahepatic cholestasis (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Childhood, Infancy, Neonatal

Similar variants

ATP8B1 c.1473+1G>C Pathogenic ★★ same condition
ATP8B1 c.2097+2T>C Pathogenic/Likely pathogenic ★★ same condition
ATP8B1 c.555-1G>C Pathogenic ★★ same condition
ATP8B1 p.Arg1014Ter Pathogenic ★★ same condition
ATP8B1 p.Arg296Cys Pathogenic/Likely pathogenic ★★ same condition
ATP8B1 p.Arg525Ter Pathogenic ★★ same condition
ATP8B1 p.Arg600Gln Pathogenic/Likely pathogenic ★★ same condition
ATP8B1 p.Arg602Ter 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/atp8b1-c-star-467g-a (accessed [today's date]).

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