AFG2B p.Arg356=
c.1068G>A · rs1153849 · VCV1244052
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 84.4%, eas) — too common for a highly-penetrant pathogenic allele
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 2.2 | GERP -3.4, phastCons 1 |
| Overall | ||
| CADD | 11.17 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
84.4%
East Asian · 36,844/43,648 alleles
Filtering AF
83.7%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 83.4%
Overall
32.7%
523,503/1,602,854 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 84.4% | 1 |
| African / African-American | 79.2% | 1 |
| Admixed American | 60.5% | 2 |
| South Asian | 38.9% | 3 |
| Middle Eastern | 36.1% | 3 |
| Remaining individualsnot grpmax-eligible | 35.5% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 34.6% | 3 |
| Finnishnot grpmax-eligible | 30.7% | 3 |
| European (non-Finnish) | 25.9% | 4 |
| Amishnot grpmax-eligible | 17.9% | 6 |
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
- AFG2B
- Protein
- p.Arg356=
- Coding
- c.1068G>A
- MANE Select
- NM_024063
- dbSNP
- rs1153849
- Type
- single nucleotide variant
- Location
- chr15:45403497 (GRCh38)
- Structure
- AlphaFold pLDDT 77.37 · 2 PDB
Similar variants
- AFG2B p.Ile466Met Pathogenic/Likely pathogenic ★★ ⚠ same type
- AFG2B p.Thr400Ile Pathogenic/Likely pathogenic ★★ same type
- AFG2B p.Arg288Pro Uncertain significance ★★ ⚠ same type
- AFG2B p.Arg28Cys Uncertain significance ★★ ⚠ same type
- AFG2B p.Phe71Leu Uncertain significance ★★ ⚠ same type
- AFG2B p.Pro558Arg Uncertain significance ★★ ⚠ same type
- AFG2B p.Ser333Ile Uncertain significance ★★ ⚠ same type
- AFG2B p.Tyr738Cys Uncertain significance ★★ ⚠ 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/afg2b-p-arg356 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown