DSG3 p.Pro827=
c.2481T>C · rs200747593 · VCV726896
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.23%, sas)
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 -7.9 | GERP -3.9 |
| Overall | ||
| CADD | 0.362 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.23%
South Asian · 1,124/91,084 alleles
Filtering AF
1.17%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.15%
Overall
0.0729%
1,176/1,614,228 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 1.23% | 81 |
| Remaining individualsnot grpmax-eligible | 0.064% | 1,563 |
| Middle Eastern | 0.0165% | 6,062 |
| African / African-American | 0.00666% | 15,014 |
| East Asian | 0.00446% | 22,442 |
| European (non-Finnish) | 0.000339% | 295,010 |
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
- DSG3
- Protein
- p.Pro827=
- Coding
- c.2481T>C
- MANE Select
- NM_001944
- dbSNP
- rs200747593
- Type
- single nucleotide variant
- Location
- chr18:31475741 (GRCh38)
- Gene constraint
- LOEUF 0.862 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.37 · 1 PDB
- Residue 827
- a UniProt-annotated variant site (in abolm; uncertain significance; loss of expression in skin and mucosa)
Similar variants
- DSG3 p.Leu856Val Uncertain significance ★★ ⚠ same type
- DSG3 c.1272-24G>A Benign ★★ same type
- DSG3 c.1412-63T>G Benign ★★ same type
- DSG3 c.1412-92T>C Benign ★★ same type
- DSG3 c.1412-95G>A Benign ★★ same type
- DSG3 c.1637-34C>T Benign ★★ same type
- DSG3 c.1897+60A>G Benign ★★ same type
- DSG3 c.2101+132G>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/dsg3-p-pro827 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown