DSG2 p.Pro5=
c.15G>A · rs772663614 · VCV1776149
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0164%, amr)
Conditions
2
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 0.18 | GERP 0.59 |
| Overall | ||
| CADD | 11.61 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0164%
Admixed American · 4/24,374 alleles
Filtering AF
0.00552%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00337%
Overall
0.00329%
5/151,962 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0164% | 6,094 |
| African / African-American | 0.00155% | 64,672 |
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.Pro5=
- Coding
- c.15G>A
- MANE Select
- NM_001943
- dbSNP
- rs772663614
- Type
- single nucleotide variant
- Location
- chr18:31498266 (GRCh38)
- Gene constraint
- LOEUF 0.764 · pLI <0.01 · ClinGen HI 2/3 (gnomAD)
- Structure
- AlphaFold pLDDT 65.27 · 12 PDB
Similar variants
- DSG2 p.Pro5Ala Uncertain significance ★★ ⚠ same residue
- DSG2 p.Pro5Ser Uncertain significance ★ ⚠ same residue
- DSG2 p.Arg46Gln Pathogenic/Likely pathogenic ★★ same condition
- DSG2 p.Arg46Trp Pathogenic/Likely pathogenic ★★ same condition
- DSG2 p.Arg49His Pathogenic/Likely pathogenic ★★ same condition
- DSG2 p.Asn266Ser Likely pathogenic ★★ same condition
- DSG2 p.Gln873Ter Pathogenic/Likely pathogenic ★★ same condition
- DSG2 p.Ser314Ter 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-pro5 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown