MARS2 p.Arg137=
c.411C>A · rs757827428 · VCV731590
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0164%, mid)
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 -0.18, phastCons 1 |
| Overall | ||
| CADD | 11.91 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0164%
Middle Eastern · 1/6,084 alleles
Filtering AF
0.00773%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00578%
Overall
0.00143%
23/1,613,694 alleles · ultra-rare
exomes 21/1,461,444 · genomes 2/152,250 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0164% | 6,084 |
| Admixed American | 0.015% | 6,668 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,622 |
| European (non-Finnish) | 0.000763% | 131,116 |
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.Arg137=
- Coding
- c.411C>A
- MANE Select
- NM_138395
- dbSNP
- rs757827428
- Type
- single nucleotide variant
- Location
- chr2:197705816 (GRCh38)
- Gene constraint
- LOEUF 0.952 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.66
Similar variants
- MARS2 p.Arg137Cys Uncertain significance ★ same residue
- MARS2 p.Arg137Leu 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-arg137 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown