DUSP6 p.Thr365=
c.1095C>T · rs146507365 · VCV741504
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.16%, 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 1.6 | GERP 0.44, phastCons 1 |
| Overall | ||
| CADD | 9.266 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.16%
African / African-American · 120/74,894 alleles
Filtering AF
0.137%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.128%
Overall
0.00843%
136/1,613,960 alleles · rare
exomes 65/1,461,842 · genomes 71/152,118 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.16% | 624 |
| Admixed American | 0.01% | 9,997 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,496 |
| East Asian | 0.00668% | 14,965 |
| South Asian | 0.0011% | 91,086 |
| European (non-Finnish) | 8.47e-05% | 1,180,016 |
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
- DUSP6
- Protein
- p.Thr365=
- Coding
- c.1095C>T
- MANE Select
- NM_001946
- dbSNP
- rs146507365
- Type
- single nucleotide variant
- Location
- chr12:89349305 (GRCh38)
- Gene constraint
- LOEUF 0.45 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 76.13 · 2 PDB
Similar variants
- DUSP6 p.Thr365Ile Uncertain significance ★ ⚠ same residue
- DUSP6 p.Ala141Asp Uncertain significance ★★ ⚠ same type
- DUSP6 p.Ala57Thr Uncertain significance ★★ ⚠ same type
- DUSP6 p.Asp93Glu Uncertain significance ★★ ⚠ same type
- DUSP6 p.Glu32Lys Uncertain significance ★★ ⚠ same type
- DUSP6 p.Gly30Cys Uncertain significance ★★ ⚠ same type
- DUSP6 p.Phe77Ile Uncertain significance ★★ ⚠ same type
- DUSP6 c.400+231T>C Benign ★★ 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/dusp6-p-thr365 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown