NONO p.Val181=
c.543G>C · rs776947124 · VCV2979497
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00346%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.076 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP 3.7 | GERP -0.02, phastCons 1 |
| Overall | ||
| CADD | 9.432 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00346%
European (non-Finnish) · 31/895,067 alleles
Filtering AF
0.00248%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00216%
Overall
0.00256%
31/1,210,024 alleles · very rare
exomes 29/1,097,896 · genomes 2/112,128 · 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.Val181=
- Coding
- c.543G>C
- MANE Select
- NM_007363
- dbSNP
- rs776947124
- Type
- single nucleotide variant
- Location
- chrX:71294421 (GRCh38)
- Structure
- AlphaFold pLDDT 77.76 · 9 PDB
- Residue 181
- the rrm 2 domain; the 'dbhs' region; a β-strand
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-val181 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown