DPP4 p.Gly645=
c.1935C>T · rs17848910 · VCV708761
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 5.08%, eas) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.24 | acceptor loss · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.6 | GERP -5.5 |
| Overall | ||
| CADD | 0.803 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
5.08%
East Asian · 2,278/44,860 alleles
Filtering AF
4.9%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.83%
Overall
0.403%
6,496/1,613,384 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 5.08% | 20 |
| Finnishnot grpmax-eligible | 3.87% | 26 |
| Admixed American | 0.384% | 261 |
| Remaining individualsnot grpmax-eligible | 0.343% | 292 |
| South Asian | 0.275% | 364 |
| Ashkenazi Jewishnot grpmax-eligible | 0.105% | 955 |
| European (non-Finnish) | 0.0853% | 1,173 |
| Middle Eastern | 0.0495% | 2,021 |
| African / African-American | 0.0107% | 9,360 |
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
- DPP4
- Protein
- p.Gly645=
- Coding
- c.1935C>T
- MANE Select
- NM_001935
- dbSNP
- rs17848910
- Type
- single nucleotide variant
- Location
- chr2:162008614 (GRCh38)
- Gene constraint
- LOEUF 0.901 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.45 · 121 PDB
Similar variants
- DPP4 c.1987+4T>C Benign ★★ same type
- DPP4 p.Ala16= Benign ★★ same type
- DPP4 p.Leu27= Benign ★★ same type
- DPP4 p.Lys539= Likely benign ★★ same type
- DPP4 p.Ser437Thr Benign ★★ ⚠ same type
- DPP4 p.Val266Ile Likely benign ★★ ⚠ same type
- DPP4 p.Ala654Thr Uncertain significance ★ ⚠ same type
- DPP4 p.Ala81Thr Uncertain significance ★ ⚠ 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/dpp4-p-gly645 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown