DSG4 p.Val17=
c.51G>A · rs758293444 · VCV2074327
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0836%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Pangolin | Δ0.26 | loss · gain 0.05 · independent |
| Constraint at this position | ||
| Conservation | phyloP 3.6 | GERP 1.2, phastCons 1 |
| Overall | ||
| CADD | 14.78 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0836%
Admixed American · 50/59,822 alleles
Filtering AF
0.0651%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0585%
Overall
0.00318%
51/1,601,396 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0836% | 1,196 |
| Remaining individualsnot grpmax-eligible | 0.00161% | 61,920 |
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
- DSG4
- Protein
- p.Val17=
- Coding
- c.51G>A
- dbSNP
- rs758293444
- Type
- single nucleotide variant
- Location
- chr18:31385138 (GRCh38)
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/dsg4-p-val17 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown