ABCG1 p.Ser257=
c.771G>A · rs150720995 · VCV3052439
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.478%, mid)
Conditions
1
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 -3.2 | GERP -4.1 |
| Overall | ||
| CADD | 8.135 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.478%
Middle Eastern · 29/6,062 alleles
Filtering AF
0.342%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.296%
Overall
0.00688%
111/1,613,816 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.478% | 209 |
| African / African-American | 0.032% | 3,127 |
| Admixed American | 0.0133% | 7,504 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,418 |
| South Asian | 0.00659% | 15,181 |
| European (non-Finnish) | 0.00314% | 31,893 |
| East Asian | 0.00223% | 44,876 |
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.Ser257=
- Coding
- c.771G>A
- MANE Select
- NM_016818
- dbSNP
- rs150720995
- Type
- single nucleotide variant
- Location
- chr21:42284596 (GRCh38)
- Gene constraint
- LOEUF 0.573 · pLI 0.20 (gnomAD)
- Structure
- AlphaFold pLDDT 81.34 · 5 PDB
- Residue 257
- the abc transporter domain; an α-helix
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.Asp614= 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
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-ser257 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown