DUSP5 p.Thr321=
c.963G>C · rs114603867 · VCV735161
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.03%, 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 -4 | GERP -4.8 |
| Overall | ||
| CADD | 1.148 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.03%
African / African-American · 775/75,040 alleles
Filtering AF
0.972%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.948%
Overall
0.0585%
944/1,614,088 alleles · low-frequency
exomes 497/1,461,816 · genomes 447/152,272 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.03% | 97 |
| Admixed American | 0.11% | 909 |
| Middle Eastern | 0.099% | 1,010 |
| Remaining individualsnot grpmax-eligible | 0.0592% | 1,689 |
| European (non-Finnish) | 0.00492% | 20,345 |
| South Asian | 0.0022% | 45,543 |
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
- DUSP5
- Protein
- p.Thr321=
- Coding
- c.963G>C
- MANE Select
- NM_004419
- dbSNP
- rs114603867
- Type
- single nucleotide variant
- Location
- chr10:110510234 (GRCh38)
- Gene constraint
- LOEUF 1.069 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.76 · 1 PDB
Similar variants
- DUSP5 p.Asp291Asn Uncertain significance ★★ ⚠ same type
- DUSP5 p.Ala55Ser Benign ★★ same type
- DUSP5 p.Ala104Val Uncertain significance ★ ⚠ same type
- DUSP5 p.Ala59Pro Uncertain significance ★ ⚠ same type
- DUSP5 p.Arg121Leu Uncertain significance ★ ⚠ same type
- DUSP5 p.Arg16Ser Uncertain significance ★ ⚠ same type
- DUSP5 p.Arg213Gln Uncertain significance ★ ⚠ same type
- DUSP5 p.Arg269Cys 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/dusp5-p-thr321 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown