DSC2 p.Arg16=
c.46C>A · rs1987975647 · VCV1297708
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,530,876)
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 -1.1 | GERP -3.3 |
| Overall | ||
| CADD | 2.943 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,530,876). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DSC2
- Protein
- p.Arg16=
- Coding
- c.46C>A
- MANE Select
- NM_024422
- dbSNP
- rs1987975647
- Type
- single nucleotide variant
- Location
- chr18:31101926 (GRCh38)
- Gene constraint
- LOEUF 0.743 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.26 · 3 PDB
Similar variants
- DSC2 p.Arg16Gly Uncertain significance ★★ ⚠ same residue
- DSC2 p.Arg16Trp Uncertain significance ★★ ⚠ same residue
- DSC2 p.Arg16Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
- DSC2 c.1521-1G>A Likely pathogenic ★★ same type
- DSC2 c.1664-1G>A Likely pathogenic ★★ same type
- DSC2 c.354+2T>A Likely pathogenic ★★ same type
- DSC2 c.355-1G>A Likely pathogenic ★★ same type
- DSC2 p.Gln554Ter Pathogenic ★★ 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/dsc2-p-arg16 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown