ABCG8 p.Ser92=
c.276C>T · rs771977246 · VCV1795785
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,614,200)
Conditions
1
Cardiovascular phenotype
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 2.7 | GERP 0.85, phastCons 1 |
| Overall | ||
| CADD | 11.63 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,614,200). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ABCG8
- Protein
- p.Ser92=
- Coding
- c.276C>T
- MANE Select
- NM_022437
- dbSNP
- rs771977246
- Type
- single nucleotide variant
- Location
- chr2:43846265 (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 92
- the abc transporter domain; a β-strand
Similar variants
- ABCG8 p.Ser92Asn Uncertain significance ★★ ⚠ same residue
- ABCG8 p.Arg121Ter Pathogenic ★★ same condition
- ABCG8 p.Arg405Cys Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ABCG8 p.Gln271Ter Pathogenic/Likely pathogenic ★★ same condition
- ABCG8 p.Ala248Thr Uncertain significance ★★ ⚠ same condition
- ABCG8 p.Ala346Thr Uncertain significance ★★ ⚠ same condition
- ABCG8 p.Ala449Val Uncertain significance ★★ ⚠ same condition
- ABCG8 p.Ala450Thr Uncertain significance ★★ ⚠ 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/abcg8-p-ser92 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown