ABCC8 p.Arg1379=
c.4137C>A · rs2133402635 · VCV1558384
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.59e-05%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2 | GERP -2.4, phastCons 1 |
| Overall | ||
| CADD | 9.108 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.59e-05%
European (non-Finnish) · 1/1,164,728 alleles
Overall
6.97e-05%
1/1,433,718 alleles · very rare
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ABCC8
- Protein
- p.Arg1379=
- Coding
- c.4137C>A
- MANE Select
- NM_000352
- dbSNP
- rs2133402635
- Type
- single nucleotide variant
- Location
- chr11:17395913 (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 1379
- a UniProt-annotated variant site (in tndm2; likely pathogenic); a UniProt-annotated variant site (in mody12; likely pathogenic); the abc transporter 2 domain
Similar variants
- ABCC8 p.Arg1379Cys Pathogenic/Likely pathogenic ★★ same residue
- ABCC8 p.Arg1379His Pathogenic/Likely pathogenic ★★ same residue
- ABCC8 p.Arg1379Leu Pathogenic/Likely pathogenic ★★ same residue
- ABCC8 p.Arg1379Ser Uncertain significance ★★ ⚠ same residue
- ABCC8 c.1176+2T>C Pathogenic/Likely pathogenic ★★ same type
- ABCC8 c.1333-1013A>G Pathogenic/Likely pathogenic ★★ same type
- ABCC8 c.148+1G>A Pathogenic/Likely pathogenic ★★ same type
- ABCC8 c.148+2T>G 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-arg1379 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown