DDR2 p.Arg714=
c.2142A>G · rs767799784 · VCV2190264
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0333%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.22 | GERP -3.9, phastCons 0.46 |
| Overall | ||
| CADD | 6.597 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0333%
Admixed American · 20/60,006 alleles
Filtering AF
0.0221%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0184%
Overall
0.00124%
20/1,613,896 alleles · ultra-rare
exomes 20/1,461,834 · genomes 0/152,062 · joint denominator
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
- DDR2
- Protein
- p.Arg714=
- Coding
- c.2142A>G
- MANE Select
- NM_006182
- dbSNP
- rs767799784
- Type
- single nucleotide variant
- Location
- chr1:162776229 (GRCh38)
- Gene constraint
- LOEUF 0.375 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.57 · 5 PDB
- Residue 714
- the protein kinase domain; an α-helix
Similar variants
- DDR2 p.Arg714Ter Pathogenic ★ same residue
- DDR2 p.Arg341Ter Pathogenic/Likely pathogenic ★★ same type
- DDR2 p.Arg611Ter Pathogenic/Likely pathogenic ★★ same type
- DDR2 p.Arg752Cys Likely pathogenic ★★ same type
- DDR2 p.Leu610Pro Pathogenic/Likely pathogenic ★★ same type
- DDR2 c.1728+6T>C Uncertain significance ★★ same type
- DDR2 c.-27-11G>C Uncertain significance ★★ same type
- DDR2 c.*48A>G 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/ddr2-p-arg714 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown