DPP7 p.Gly99=
c.297G>A · VCV4014631
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.016%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.062 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1 | GERP -1.6 |
| Overall | ||
| CADD | 7.098 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.016%
East Asian · 7/43,746 alleles
Filtering AF
0.00743%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00525%
Overall
0.000562%
9/1,600,314 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.016% | 6,249 |
| Admixed American | 0.00168% | 59,492 |
| European (non-Finnish) | 8.51e-05% | 1,174,874 |
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
- DPP7
- Protein
- p.Gly99=
- Coding
- c.297G>A
- MANE Select
- NM_013379
- Type
- single nucleotide variant
- Location
- chr9:137114267 (GRCh38)
- Gene constraint
- LOEUF 1.707 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.44 · 3 PDB
Similar variants
- DPP7 p.Arg17= Likely benign ★★ same type
- DPP7 c.322-1G>T Uncertain significance ★ same type
- DPP7 p.Ala118Gly Uncertain significance ★ ⚠ same type
- DPP7 p.Ala118Val Uncertain significance ★ ⚠ same type
- DPP7 p.Ala136Val Uncertain significance ★ ⚠ same type
- DPP7 p.Ala139Gly Uncertain significance ★ ⚠ same type
- DPP7 p.Ala13Val Uncertain significance ★ ⚠ same type
- DPP7 p.Ala158Asp 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/dpp7-p-gly99 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown