Is ABCG1 p.Asp614= (c.1842C>T) pathogenic?

ABCG1 p.Asp614= (c.1842C>T) is classified Likely benign in ABCG1 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-05-27). Rare (popmax 0.413%, afr); Associated with ABCG1-related disorder.

What condition is associated with ABCG1 p.Asp614= (c.1842C>T)?

ABCG1 p.Asp614= (c.1842C>T) is associated with ABCG1-related disorder (ClinVar).

How common is ABCG1 p.Asp614= (c.1842C>T) in the general population?

ABCG1 p.Asp614= (c.1842C>T) is rare (popmax 0.413%, afr) (gnomAD).

ABCG1 p.Asp614=

c.1842C>T · rs73364654 · VCV3039239

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.413%, afr)

Conditions

ABCG1-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 -20	GERP -4
Overall
CADD	0.11	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.413% African / African-American · 310/75,006 alleles

Filtering AF 0.375% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.361%

Overall 0.023% 371/1,614,118 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.413%	242
Remaining individualsnot grpmax-eligible	0.0416%	2,404
Admixed American	0.0117%	8,575
European (non-Finnish)	0.00237%	42,143

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: ABCG1
Protein: p.Asp614=
Coding: c.1842C>T
MANE Select: NM_016818
dbSNP: rs73364654
Type: single nucleotide variant
Location: chr21:42296233 (GRCh38)
Gene constraint: LOEUF 0.573 · pLI 0.20 (gnomAD)
Structure: AlphaFold pLDDT 81.34 · 5 PDB
Residue 614: the abc transmembrane type-2 domain

Full ABCG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ABCG1-related disorder

Similar variants

ABCG1 p.Phe640Leu Uncertain significance ⚠ same condition
ABCG1 c.538-6C>T Benign same condition
ABCG1 p.Ala203= Likely benign same condition
ABCG1 p.Cys3= Benign same condition
ABCG1 p.Gly331= Benign same condition
ABCG1 p.Gly358Arg Benign same condition
ABCG1 p.Leu113= Benign same condition
ABCG1 p.Phe448= Likely benign 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/abcg1-p-asp614 (accessed [today's date]).

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