ARG2 p.Gly36=
c.108G>A · rs143687219 · VCV714579
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.883%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.66 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.41 | GERP -0.73, phastCons 0.84 |
| Overall | ||
| CADD | 10.63 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.883%
African / African-American · 657/74,432 alleles
Filtering AF
0.827%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.805%
Overall
0.0459%
735/1,601,366 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.883% | 113 |
| Admixed American | 0.0614% | 1,629 |
| Remaining individualsnot grpmax-eligible | 0.0419% | 2,385 |
| Middle Eastern | 0.0331% | 3,017 |
| South Asian | 0.00112% | 89,418 |
| European (non-Finnish) | 0.00111% | 90,252 |
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
- ARG2
- Protein
- p.Gly36=
- Coding
- c.108G>A
- MANE Select
- NM_001172
- dbSNP
- rs143687219
- Type
- single nucleotide variant
- Location
- chr14:67620085 (GRCh38)
- Gene constraint
- LOEUF 0.78 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.55 · 18 PDB
Similar variants
- ARG2 p.Ala308= Benign/Likely benign ★★ same type
- ARG2 p.Arg4Trp Likely benign ★★ ⚠ same type
- ARG2 p.Ala106Pro Uncertain significance ★ ⚠ same type
- ARG2 p.Ala123Thr Uncertain significance ★ ⚠ same type
- ARG2 p.Ala191Ser Uncertain significance ★ ⚠ same type
- ARG2 p.Ala31Asp Uncertain significance ★ ⚠ same type
- ARG2 p.Arg105Ser Uncertain significance ★ ⚠ same type
- ARG2 p.Arg132Gln 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/arg2-p-gly36 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown