NONO p.Arg324=
c.972G>T · VCV3725198
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00313%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.051 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.8 | GERP -0.032, phastCons 1 |
| Overall | ||
| CADD | 10.9 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00313%
East Asian · 1/32,000 alleles
Overall
8.45e-05%
1/1,183,578 alleles · very rare
exomes 1/1,069,944 · genomes 0/113,634 · 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
- NONO
- Protein
- p.Arg324=
- Coding
- c.972G>T
- MANE Select
- NM_007363
- Type
- single nucleotide variant
- Location
- chrX:71297405 (GRCh38)
- Structure
- AlphaFold pLDDT 77.76 · 9 PDB
- Residue 324
- the 'dbhs' region
Similar variants
- NONO c.651-1G>C Likely pathogenic ★★ same type
- NONO p.Ala377= Pathogenic ★★ same type
- NONO p.Arg184Ter Pathogenic ★★ same type
- NONO p.Ala453Pro Uncertain significance ★★ ⚠ same type
- NONO p.Arg202Trp Uncertain significance ★★ ⚠ same type
- NONO p.Arg456Ser Uncertain significance ★★ ⚠ same type
- NONO p.Asn161Asp Uncertain significance ★★ ⚠ same type
- NONO p.Gln380Arg 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/nono-p-arg324 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown