NONO p.Pro255=
c.765C>T · rs758818790 · VCV745910
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00877%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.353 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.53 | GERP -4.1, phastCons 1 |
| Overall | ||
| CADD | 10.09 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00877%
African / African-American · 5/56,994 alleles
Filtering AF
0.00339%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00216%
Overall
0.000414%
5/1,206,451 alleles · very rare
exomes 0/1,094,861 · genomes 5/111,590 · 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.Pro255=
- Coding
- c.765C>T
- MANE Select
- NM_007363
- dbSNP
- rs758818790
- Type
- single nucleotide variant
- Location
- chrX:71296869 (GRCh38)
- Structure
- AlphaFold pLDDT 77.76 · 9 PDB
- Residue 255
- 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-pro255 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown