ABCC8 p.Ala1369Phe
c.4105_4106delinsTT · VCV3610401
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 5.9 | GERP -0.97, phastCons 1 |
| Regional constraint | o/e 0.84 | unconstrained · MANE · 84 kb · p 1.4e-12 · regional, not allelic |
Variant & gene context
- Gene
- ABCC8
- Protein
- p.Ala1369Phe
- Coding
- c.4105_4106delinsTT
- MANE Select
- NM_000352
- Type
- Indel
- Location
- chr11:17396929 (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 1369
- a UniProt-annotated variant site (in); the abc transporter 2 domain
Similar variants
- ABCC8 p.Ala1369Ser Benign ★★ same residue
- ABCC8 p.Ala1369Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
- ABCC8 p.Ala1369= Likely benign ★ same residue
- ABCC8 p.Thr1042fs Pathogenic/Likely pathogenic ★★ same type
- ABCC8 c.1818-1_1822delinsCAA Likely pathogenic ★ same type
- ABCC8 c.2556_2556+15delinsCCTGGGGTCCTTGT Likely pathogenic ★ same type
- ABCC8 p.Asn331fs Likely pathogenic ★ same type
- ABCC8 p.Lys227_Thr229delinsSerTer Likely 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-ala1369phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown