DIABLO p.Arg10=
c.30C>G · rs1358073390 · VCV1567454
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00102%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.003 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.1 | GERP -1.7, phastCons 0.043 |
| Overall | ||
| CADD | 5.576 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00102%
European (non-Finnish) · 12/1,175,122 alleles
Filtering AF
0.000545%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00043%
Overall
0.000749%
12/1,601,884 alleles · very rare
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
- DIABLO
- Protein
- p.Arg10=
- Coding
- c.30C>G
- MANE Select
- NM_001371333
- dbSNP
- rs1358073390
- Type
- single nucleotide variant
- Location
- chr12:122225985 (GRCh38)
- Gene constraint
- LOEUF 1.245 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.53 · 16 PDB
Similar variants
- DIABLO p.Arg10Cys Uncertain significance ★★ ⚠ same residue
- DIABLO p.Ser9Leu Uncertain significance ★★ ⚠ same type
- DIABLO p.Tyr117His Uncertain significance ★★ ⚠ same type
- DIABLO c.183+63G>A Benign ★★ same type
- DIABLO c.184-70G>A Benign ★★ same type
- DIABLO c.316-101T>C Likely benign ★★ same type
- DIABLO c.316-258A>T Benign ★★ same type
- DIABLO c.316-8A>G Benign/Likely benign ★★ 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/diablo-p-arg10 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown