MARS2 p.Arg8=
c.24C>G · rs116491566 · VCV138170
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.34%, afr)
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 5.8 | GERP -2.5, phastCons 1 |
| Overall | ||
| CADD | 7.106 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.34%
African / African-American · 1,758/75,016 alleles
Filtering AF
2.25%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.22%
Overall
0.142%
2,283/1,611,374 alleles · low-frequency
exomes 1,248/1,459,012 · genomes 1,035/152,362 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.34% | 43 |
| Admixed American | 0.25% | 400 |
| Remaining individualsnot grpmax-eligible | 0.196% | 511 |
| Middle Eastern | 0.092% | 1,087 |
| European (non-Finnish) | 0.0209% | 4,775 |
| South Asian | 0.0011% | 91,010 |
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
- MARS2
- Protein
- p.Arg8=
- Coding
- c.24C>G
- MANE Select
- NM_138395
- dbSNP
- rs116491566
- Type
- single nucleotide variant
- Location
- chr2:197705429 (GRCh38)
- Gene constraint
- LOEUF 0.952 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.66
Similar variants
- MARS2 p.Arg8Leu Uncertain significance ★ ⚠ same residue
- MARS2 p.Arg8Ser Uncertain significance ★ ⚠ same residue
- MARS2 p.Ala141Val Uncertain significance ★★ ⚠ same type
- MARS2 p.Ala402Ser Uncertain significance ★★ ⚠ same type
- MARS2 p.Arg142Trp Uncertain significance ★★ ⚠ same type
- MARS2 p.Arg224Gln Uncertain significance ★★ ⚠ same type
- MARS2 p.Arg409Gly Uncertain significance ★★ ⚠ same type
- MARS2 p.Arg414Ile 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/mars2-p-arg8 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown