Is ABCG8 p.Ile510= (c.1530C>A) pathogenic?

ABCG8 p.Ile510= (c.1530C>A) is classified Likely benign in ABCG8 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2021-04-19). Absent from gnomAD v4.1; Associated with ABCG8-related disorder.

What condition is associated with ABCG8 p.Ile510= (c.1530C>A)?

ABCG8 p.Ile510= (c.1530C>A) is associated with ABCG8-related disorder (ClinVar).

How common is ABCG8 p.Ile510= (c.1530C>A) in the general population?

ABCG8 p.Ile510= (c.1530C>A) is absent from gnomAD v4.1 (gnomAD).

ABCG8 p.Ile510=

c.1530C>A · rs2466282817 · VCV3030051

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

ABCG8-related disorder

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 1.4	GERP 0.47, phastCons 1
Overall
CADD	7.534	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ABCG8
Protein: p.Ile510=
Coding: c.1530C>A
MANE Select: NM_022437
dbSNP: rs2466282817
Type: single nucleotide variant
Location: chr2:43875187 (GRCh38)
Gene constraint: LOEUF 1.329 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 80.94 · 8 PDB
Residue 510: the abc transmembrane type-2 domain; an α-helix

Full ABCG8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ABCG8-related disorder

Similar variants

ABCG8 p.Gly574Arg Pathogenic/Likely pathogenic ★★ same condition
ABCG8 p.Trp361Ter Pathogenic/Likely pathogenic ★★ same condition
ABCG8 p.Arg263Trp Uncertain significance ★★ ⚠ same condition
ABCG8 p.Glu423Asp Uncertain significance ★★ ⚠ same condition
ABCG8 c.1411+1G>A Likely pathogenic ★ same condition
ABCG8 p.Gln99Ter Likely pathogenic ★ same condition
ABCG8 p.Ala550Val Uncertain significance ★ ⚠ same condition
ABCG8 p.Arg121= Uncertain significance ★ 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/abcg8-p-ile510 (accessed [today's date]).

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