ABCC8 p.Ala804fs
c.2409del · VCV4061758
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Hereditary hyperinsulinism
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 20 of 39 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCC8
- Protein
- p.Ala804fs
- Coding
- c.2409del
- MANE Select
- NM_000352
- Type
- Deletion
- Location
- chr11:17413460 (GRCh38)
- Gene constraint
- LOEUF 0.829 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 82.56 · 8 PDB
- Residue 804
- an α-helix; the abc transporter 1 domain
Disease context
Hereditary hyperinsulinism
Similar variants
- ABCC8 p.Gln273fs Pathogenic/Likely pathogenic ★★ same condition
- ABCC8 p.Ile550fs Pathogenic/Likely pathogenic ★★ same condition
- ABCC8 p.Leu1170fs Pathogenic/Likely pathogenic ★★ same condition
- ABCC8 p.Phe1387del Pathogenic ★★ same condition
- ABCC8 p.Ala736fs Likely pathogenic ★ same condition
- ABCC8 p.Arg285fs Likely pathogenic ★ same condition
- ABCC8 p.Asp1427fs Likely pathogenic ★ same condition
- ABCC8 p.Gln707fs 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/abcc8-p-ala804fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown