ABCG8 p.Cys200=
c.600C>T · rs770511598 · VCV1563675
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00891%, eas)
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 -7.1 | GERP -4.2 |
| Overall | ||
| CADD | 2.79 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00891%
East Asian · 4/44,882 alleles
Filtering AF
0.00298%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00195%
Overall
0.00105%
17/1,612,172 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00891% | 11,220 |
| South Asian | 0.00659% | 15,167 |
| African / African-American | 0.00267% | 37,447 |
| European (non-Finnish) | 0.000424% | 236,007 |
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
- ABCG8
- Protein
- p.Cys200=
- Coding
- c.600C>T
- MANE Select
- NM_022437
- dbSNP
- rs770511598
- Type
- single nucleotide variant
- Location
- chr2:43852392 (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 200
- the abc transporter domain; an α-helix
Similar variants
- ABCG8 p.Cys200Arg Uncertain significance ★★ ⚠ same residue
- ABCG8 c.64-2A>G Pathogenic ★★ same type
- ABCG8 c.964+1G>T Likely pathogenic ★★ same type
- ABCG8 c.965-1G>C Pathogenic ★★ same type
- ABCG8 p.Arg121Ter Pathogenic ★★ same type
- ABCG8 p.Arg164Ter Pathogenic ★★ same type
- ABCG8 p.Arg405Cys Pathogenic/Likely pathogenic ★★ ⚠ same type
- ABCG8 p.Arg412Ter Pathogenic/Likely pathogenic ★★ 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/abcg8-p-cys200 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown