Is ABCG5 p.Val232= (c.696C>T) pathogenic?

ABCG5 p.Val232= (c.696C>T) is classified Conflicting classifications of pathogenicity in ABCG5 (ClinVar, Conflicting submitters, 13 submitters; last evaluated 2026-04-01). Low-frequency (popmax 2.11%, mid); Associated with Cardiovascular phenotype.

What condition is associated with ABCG5 p.Val232= (c.696C>T)?

ABCG5 p.Val232= (c.696C>T) is associated with Cardiovascular phenotype, sitosterolemia, sitosterolemia 1 (ClinVar).

How common is ABCG5 p.Val232= (c.696C>T) in the general population?

ABCG5 p.Val232= (c.696C>T) is low-frequency (popmax 2.11%, mid) (gnomAD).

ABCG5 p.Val232=

c.696C>T · rs72796720 · VCV283812

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 13 submitters

gnomAD v4.1

Rare

low-frequency (popmax 2.11%, mid)

Conditions

Cardiovascular phenotype

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 -3.1	GERP -3.7
Overall
CADD	0.557	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.11% Middle Eastern · 128/6,060 alleles

Filtering AF 1.81% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.7%

Overall 0.199% 3,211/1,614,156 alleles · low-frequency

Ancestry group	Frequency	1 in
Middle Easterngrpmax	2.11%	47
South Asian	0.394%	254
Remaining individualsnot grpmax-eligible	0.326%	306
Admixed American	0.307%	326
Ashkenazi Jewishnot grpmax-eligible	0.257%	390
European (non-Finnish)	0.186%	539
African / African-American	0.0919%	1,088
Finnishnot grpmax-eligible	0.00312%	32,012

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ABCG5
Protein: p.Val232=
Coding: c.696C>T
MANE Select: NM_022436
dbSNP: rs72796720
Type: single nucleotide variant
Location: chr2:43826460 (GRCh38)
Gene constraint: LOEUF 1.219 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 85.48 · 8 PDB
Residue 232: the abc transporter domain; an α-helix

Full ABCG5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: sitosterolemia sitosterolemia 1

Similar variants

ABCG5 p.Val232Ala Uncertain significance ★ ⚠ same residue
ABCG5 p.Val232Ile Likely benign ★ same residue
ABCG5 c.1325-1G>T Likely pathogenic ★★ same condition
ABCG5 c.1762+1G>A Pathogenic/Likely pathogenic ★★ same condition
ABCG5 c.634+1G>C Likely pathogenic ★★ same condition
ABCG5 c.904+1G>A Pathogenic ★★ same condition
ABCG5 p.Arg183Ter Pathogenic/Likely pathogenic ★★ same condition
ABCG5 p.Arg243Ter 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/abcg5-p-val232 (accessed [today's date]).

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