DPP4 p.Ser376=
c.1128C>T · rs199672034 · VCV748436
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.18%, afr)
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 2.5 | GERP -0.42, phastCons 1 |
| Overall | ||
| CADD | 7.165 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.18%
African / African-American · 135/74,844 alleles
Filtering AF
0.156%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.146%
Overall
0.00868%
140/1,612,528 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.18% | 554 |
| Remaining individualsnot grpmax-eligible | 0.00641% | 15,611 |
| Admixed American | 0.00167% | 59,804 |
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.Ser376=
- Coding
- c.1128C>T
- MANE Select
- NM_001935
- dbSNP
- rs199672034
- Type
- single nucleotide variant
- Location
- chr2:162020629 (GRCh38)
- Gene constraint
- LOEUF 0.901 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.45 · 121 PDB
- Residue 376
- a β-strand
Similar variants
- DPP4 c.1987+4T>C Benign ★★ same type
- DPP4 p.Ala16= Benign ★★ same type
- DPP4 p.Gly645= 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
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-ser376 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown