DUSP22 p.Asn128=
c.384C>T · VCV3388479
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.849%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.061 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.8 | GERP 0.02, phastCons 1 |
| Overall | ||
| CADD | 16.04 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.849%
South Asian · 769/90,558 alleles
Filtering AF
0.799%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.779%
Overall
0.0537%
866/1,613,700 alleles · rare
exomes 818/1,461,304 · genomes 48/152,396 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.849% | 118 |
| Remaining individualsnot grpmax-eligible | 0.0368% | 2,717 |
| Middle Eastern | 0.033% | 3,031 |
| East Asian | 0.0178% | 5,612 |
| African / African-American | 0.00533% | 18,770 |
| Admixed American | 0.005% | 20,012 |
| European (non-Finnish) | 0.00475% | 21,072 |
| Finnishnot grpmax-eligible | 0.00156% | 64,046 |
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
- DUSP22
- Protein
- p.Asn128=
- Coding
- c.384C>T
- MANE Select
- NM_001286555
- Type
- single nucleotide variant
- Location
- chr6:348223 (GRCh38)
- Gene constraint
- LOEUF 1.407 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.64 · 8 PDB
- Residue 128
- the tyrosine-protein phosphatase domain
Similar variants
- DUSP22 c.*1874C>G Uncertain significance ★ ⚠ same type
- DUSP22 c.*1877C>T Uncertain significance ★ ⚠ same type
- DUSP22 c.*1891T>C Uncertain significance ★ ⚠ same type
- DUSP22 c.*1897G>A Uncertain significance ★ ⚠ same type
- DUSP22 c.*1898C>A Uncertain significance ★ ⚠ same type
- DUSP22 c.*1898C>T Uncertain significance ★ ⚠ same type
- DUSP22 c.*1903C>T Uncertain significance ★ ⚠ same type
- DUSP22 c.*1913T>A 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/dusp22-p-asn128 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown