ABCG8 p.Glu48=
c.144G>A · rs1668682396 · VCV2810817
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.23 | donor loss at this position · masked 0 · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.2 | GERP -0.42, phastCons 1 |
| Overall | ||
| CADD | 3.748 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,062 alleles
Overall
6.84e-05%
1/1,461,756 alleles · ultra-rare
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.Glu48=
- Coding
- c.144G>A
- MANE Select
- NM_022437
- dbSNP
- rs1668682396
- Type
- single nucleotide variant
- Location
- chr2:43844587 (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 48
- the abc transporter domain; a β-strand
Similar variants
- 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
- ABCG8 p.Gln271Ter 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-glu48 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown