DSEL p.Arg296Cys
c.886C>T · rs778536579 · VCV3085937
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00133%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.485 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 8.7 | GERP -1.1, phastCons 1 |
| Regional constraint | o/e 0.35 | constrained · MANE · 78 bp · p 0.0003 · regional, not allelic |
| Overall | ||
| CADD | 29.3 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/75,032 alleles
Filtering AF
0.000359%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00026%
Overall
0.000752%
11/1,461,884 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00133% | 75,032 |
| South Asian | 0.0011% | 91,084 |
| European (non-Finnish) | 0.000763% | 131,115 |
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.Arg296Cys
- Coding
- c.886C>T
- MANE Select
- NM_032160
- dbSNP
- rs778536579
- Type
- single nucleotide variant
- Location
- chr18:67513723 (GRCh38)
- Gene constraint
- LOEUF 0.743 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.75
Similar variants
- DSEL p.Arg296His Uncertain significance ★ same residue
- 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
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-arg296cys (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown