ARSG p.Arg342=
c.1026G>A · rs77667421 · VCV1167369
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 5.14%, afr) — 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 -3.2 | GERP -3.3 |
| Overall | ||
| CADD | 1.776 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
5.14%
African / African-American · 3,852/74,984 alleles
Filtering AF
5%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.95%
Overall
0.269%
4,343/1,614,028 alleles · common
exomes 2,129/1,461,832 · genomes 2,214/152,196 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 5.14% | 19 |
| Admixed American | 0.362% | 277 |
| Remaining individualsnot grpmax-eligible | 0.302% | 331 |
| Middle Eastern | 0.099% | 1,010 |
| European (non-Finnish) | 0.00627% | 15,946 |
| South Asian | 0.00549% | 18,216 |
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
- ARSG
- Protein
- p.Arg342=
- Coding
- c.1026G>A
- MANE Select
- NM_001267727
- dbSNP
- rs77667421
- Type
- single nucleotide variant
- Location
- chr17:68385107 (GRCh38)
- Gene constraint
- LOEUF 0.996 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.90
Similar variants
- ARSG p.Arg342Gln Uncertain significance ★★ same residue
- ARSG p.Arg342Leu Uncertain significance ★★ ⚠ same residue
- ARSG p.Arg342Trp Uncertain significance ★ ⚠ same residue
- ARSG c.1091+1G>A Likely pathogenic ★★ same type
- ARSG c.982+2T>G Likely pathogenic ★★ same type
- ARSG p.Ala180Val Uncertain significance ★★ ⚠ same type
- ARSG p.Ala262Val Uncertain significance ★★ ⚠ same type
- ARSG p.Ala313Val 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/arsg-p-arg342 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown