ABCB11 p.Ser32Ter
c.95C>G · VCV4846174
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
familial intrahepatic cholestasis
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 6.5 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 36.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ABCB11
- Protein
- p.Ser32Ter
- Coding
- c.95C>G
- MANE Select
- NM_003742
- Type
- single nucleotide variant
- Location
- chr2:169016781 (GRCh38)
- Gene constraint
- LOEUF 0.739 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 83.23 · 9 PDB
- Residue 32
- the 'disordered' region
Similar variants
- ABCB11 c.1084-2A>G Pathogenic ★★ same condition
- ABCB11 c.1197+1G>T Pathogenic/Likely pathogenic ★★ same condition
- ABCB11 c.1198-1G>C Pathogenic/Likely pathogenic ★★ same condition
- ABCB11 c.1435-2A>T Pathogenic/Likely pathogenic ★★ same condition
- ABCB11 c.150+3A>C Pathogenic/Likely pathogenic ★★ same condition
- ABCB11 c.1638+1G>C Likely pathogenic ★★ same condition
- ABCB11 c.2012-2A>G Pathogenic ★★ same condition
- ABCB11 c.2012-8T>G Pathogenic/Likely 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/abcb11-p-ser32ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown