ABCC8 p.Gln714fs
c.2139dup · VCV3340565
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 16 of 39 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCC8
- Protein
- p.Gln714fs
- Coding
- c.2139dup
- MANE Select
- NM_000352
- Type
- Duplication
- Location
- chr11:17427131 (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 714
- the abc transporter 1 domain
Similar variants
- ABCC8 p.Gln714Ter Likely pathogenic ★ same residue
- ABCC8 p.Ala286fs Pathogenic/Likely pathogenic ★★ same type
- ABCC8 p.Met429Ter Pathogenic ★★ same type
- ABCC8 p.Ser752fs Pathogenic/Likely pathogenic ★★ same type
- ABCC8 p.Val1259fs Pathogenic ★★ same type
- ABCC8 p.Val28fs Pathogenic ★★ same type
- ABCC8 p.Ala146fs Likely pathogenic ★ same type
- ABCC8 p.Asp1192fs 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/abcc8-p-gln714fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown