ABCG1 p.Pro149=
c.447C>G · rs61735843 · VCV711761
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.76%, afr)
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 -2.3 | GERP -3.8 |
| Overall | ||
| CADD | 6.136 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.76%
African / African-American · 1,317/75,032 alleles
Filtering AF
1.68%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.64%
Overall
0.0918%
1,482/1,613,868 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.76% | 57 |
| Remaining individualsnot grpmax-eligible | 0.13% | 772 |
| Admixed American | 0.112% | 896 |
| Middle Eastern | 0.0495% | 2,019 |
| South Asian | 0.00439% | 22,773 |
| European (non-Finnish) | 0.000847% | 118,000 |
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.Pro149=
- Coding
- c.447C>G
- MANE Select
- NM_016818
- dbSNP
- rs61735843
- Type
- single nucleotide variant
- Location
- chr21:42273345 (GRCh38)
- Gene constraint
- LOEUF 0.573 · pLI 0.20 (gnomAD)
- Structure
- AlphaFold pLDDT 81.34 · 5 PDB
- Residue 149
- the abc transporter domain
Similar variants
- ABCG1 p.Ala456= Benign ★★ same type
- ABCG1 p.Leu643= Likely benign ★★ same type
- ABCG1 p.Ser547= Benign ★★ same type
- ABCG1 c.1122+21A>C Uncertain significance ★ ⚠ same type
- ABCG1 c.1122+24G>C Uncertain significance ★ ⚠ same type
- ABCG1 c.1122+2T>C Uncertain significance ★ ⚠ same type
- ABCG1 p.Ala546Thr Uncertain significance ★ ⚠ same type
- ABCG1 p.Arg222Cys Uncertain significance ★ ⚠ same type
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-pro149 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown