ABCG5 p.His49fs
c.145del · VCV3671907
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
sitosterolemia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.1 | GERP -2, phastCons 0.81 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCG5
- Protein
- p.His49fs
- Coding
- c.145del
- MANE Select
- NM_022436
- Type
- Deletion
- Location
- chr2:43837954 (GRCh38)
- Gene constraint
- LOEUF 1.219 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 85.48 · 8 PDB
Disease context
sitosterolemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Sitosterolemia (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- All ages
Similar variants
- ABCG5 p.Gly192fs Pathogenic/Likely pathogenic ★★ same condition
- ABCG5 p.Ser46fs Pathogenic ★★ same condition
- ABCG5 p.Thr108fs Pathogenic ★★ same condition
- ABCG5 c.501+16del Benign/Likely benign ★★ same condition
- ABCG5 c.1323_1324+2del Likely pathogenic ★ same condition
- ABCG5 c.1324_1324+15del Likely pathogenic ★ same condition
- ABCG5 c.635-153_1588del Likely pathogenic ★ same condition
- ABCG5 p.Glu326fs Pathogenic ★ 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/abcg5-p-his49fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown