DSEL p.Arg1204His
c.3611G>A · VCV3505379
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.017%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.033 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.99 | GERP -2.2 |
| Regional constraint | o/e 0.92 | unconstrained · MANE · 2,707 bp · p 0.014 · regional, not allelic |
| Overall | ||
| CADD | 15.4 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.017%
European (non-Finnish) · 199/1,173,356 alleles
Filtering AF
0.015%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0143%
Overall
0.0143%
228/1,597,436 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.017% | 5,896 |
| Remaining individualsnot grpmax-eligible | 0.0162% | 6,174 |
| Admixed American | 0.0122% | 8,196 |
| South Asian | 0.00687% | 14,555 |
| African / African-American | 0.00404% | 24,755 |
| Finnishnot grpmax-eligible | 0.00315% | 31,699 |
| East Asian | 0.00223% | 44,786 |
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
- DSEL
- Protein
- p.Arg1204His
- Coding
- c.3611G>A
- MANE Select
- NM_032160
- Type
- single nucleotide variant
- Location
- chr18:67510998 (GRCh38)
- Gene constraint
- LOEUF 0.743 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.75
Similar variants
- DSEL p.Pro942Ser Benign ★★ same type
- DSEL p.Tyr730Cys Likely benign ★★ same type
- DSEL c.-1C>G Uncertain significance ★ same type
- DSEL p.Ala1110Val Uncertain significance ★ same type
- DSEL p.Ala178Thr Uncertain significance ★ same type
- DSEL p.Ala236Thr Uncertain significance ★ same type
- DSEL p.Ala278Thr Uncertain significance ★ same type
- DSEL p.Ala2Thr 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/dsel-p-arg1204his (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown