DUSP8 p.Asp271=
c.813C>T · rs77411787 · VCV769792
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.52%, 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 -4.7 | |
| Overall | ||
| CADD | 3.122 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.52%
Middle Eastern · 188/5,342 alleles
Filtering AF
3.11%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.95%
Overall
0.569%
9,171/1,613,074 alleles · low-frequency
exomes 8,405/1,460,742 · genomes 766/152,332 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 3.52% | 28 |
| Ashkenazi Jewishnot grpmax-eligible | 2.01% | 50 |
| Remaining individualsnot grpmax-eligible | 0.795% | 126 |
| Amishnot grpmax-eligible | 0.658% | 152 |
| European (non-Finnish) | 0.58% | 173 |
| Admixed American | 0.57% | 175 |
| South Asian | 0.565% | 177 |
| African / African-American | 0.145% | 688 |
| Finnishnot grpmax-eligible | 0.127% | 789 |
| East Asian | 0.00223% | 44,866 |
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
- DUSP8
- Protein
- p.Asp271=
- Coding
- c.813C>T
- MANE Select
- NM_004420
- dbSNP
- rs77411787
- Type
- single nucleotide variant
- Location
- chr11:1557802 (GRCh38)
- Gene constraint
- LOEUF 0.813 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 63.99 · 1 PDB
- Residue 271
- the tyrosine-protein phosphatase domain; an α-helix
Similar variants
- DUSP8 p.Ala101Thr Uncertain significance ★ ⚠ same type
- DUSP8 p.Ala272Ser Uncertain significance ★ ⚠ same type
- DUSP8 p.Ala305Thr Uncertain significance ★ ⚠ same type
- DUSP8 p.Ala325Pro Uncertain significance ★ ⚠ same type
- DUSP8 p.Ala345Val Uncertain significance ★ ⚠ same type
- DUSP8 p.Ala366Val Uncertain significance ★ ⚠ same type
- DUSP8 p.Ala403Val Uncertain significance ★ ⚠ same type
- DUSP8 p.Ala445Thr 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/dusp8-p-asp271 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown