Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 18 submitters
gnomAD v4.1
Common
common (popmax 71.4%, eas) — too common for a highly-penetrant pathogenic allele
Conditions
4
Cardiovascular phenotype
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 0.35 | GERP 0.28, phastCons 0.99 |
| Overall | ||
| CADD | 7.262 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
71.4%
East Asian · 32,036/44,860 alleles
Filtering AF
70.8%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 70.5%
Overall
40.1%
646,360/1,613,426 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 71.4% | 1 |
| African / African-American | 68.5% | 1 |
| Admixed American | 44.2% | 2 |
| Remaining individualsnot grpmax-eligible | 41.1% | 2 |
| Finnishnot grpmax-eligible | 40.7% | 2 |
| European (non-Finnish) | 37.6% | 3 |
| Middle Eastern | 36% | 3 |
| South Asian | 32.6% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 32.1% | 3 |
| Amishnot grpmax-eligible | 31.1% | 3 |
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
- DSG2
- Protein
- p.Val1107=
- Coding
- c.3321T>C
- MANE Select
- NM_001943
- dbSNP
- rs1791235
- Type
- single nucleotide variant
- Location
- chr18:31546707 (GRCh38)
- Gene constraint
- LOEUF 0.764 · pLI <0.01 · ClinGen HI 2/3 (gnomAD)
- Structure
- AlphaFold pLDDT 65.27 · 12 PDB
- Residue 1107
- the 'disordered' region; a UniProt-annotated variant site (in arvd10; uncertain significance; evidence of residual myocardium, fibrous tissue, fatty tissue, dysmetric and dysmorphic nuclei and prominent cytoplasmic vacuolization; decreases the number of desmosomes at intercalated disks also increases desmosome gap; smaller intercellular gaps, with repeating couplings, abnormally located desmosomes and pale internal plaques); a UniProt-annotated variant site (in arvd10; uncertain significance)
Similar variants
- DSG2 p.Val1107Ile Uncertain significance ★ same residue
- DSG2 c.1423+1G>T Likely pathogenic ★★ same condition
- DSG2 c.1424-1G>A Likely pathogenic ★★ same condition
- DSG2 c.523+1G>T Pathogenic/Likely pathogenic ★★ same condition
- DSG2 c.690+1G>A Pathogenic ★★ same condition
- DSG2 c.81+1G>T Likely pathogenic ★★ same condition
- DSG2 c.829-2A>T Likely pathogenic ★★ same condition
- DSG2 p.Arg46Gln Pathogenic/Likely pathogenic ★★ same condition
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/dsg2-p-val1107 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown