UNC80 p.Pro1840=
c.5520G>A · rs201023763 · VCV761256
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.151%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -3.7 | GERP -4 |
| Overall | ||
| CADD | 0.371 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.151%
Middle Eastern · 9/5,956 alleles
Filtering AF
0.0788%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0588%
Overall
0.0125%
193/1,549,668 alleles · rare
exomes 180/1,397,414 · genomes 13/152,254 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.151% | 662 |
| Remaining individualsnot grpmax-eligible | 0.035% | 2,857 |
| Admixed American | 0.0257% | 3,895 |
| African / African-American | 0.0164% | 6,082 |
| European (non-Finnish) | 0.0116% | 8,618 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00351% | 28,504 |
| Finnishnot grpmax-eligible | 0.00334% | 29,902 |
| South Asian | 0.00239% | 41,873 |
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
- UNC80
- Protein
- p.Pro1840=
- Coding
- c.5520G>A
- MANE Select
- NM_001371986
- dbSNP
- rs201023763
- Type
- single nucleotide variant
- Location
- chr2:209921676 (GRCh38)
- Gene constraint
- LOEUF 0.48 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Similar variants
- UNC80 p.Pro1840Leu Uncertain significance ★★ ⚠ same residue
- UNC80 p.Pro1840Ser Uncertain significance ★ ⚠ same residue
- UNC80 c.4110+1G>C Pathogenic/Likely pathogenic ★★ same type
- UNC80 c.7287-1G>A Likely pathogenic ★★ same type
- UNC80 c.8772+1G>A Likely pathogenic ★★ same type
- UNC80 p.Arg1069Ter Pathogenic ★★ same type
- UNC80 p.Arg1076Ter Pathogenic ★★ same type
- UNC80 p.Arg1110Ter Pathogenic ★★ 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/unc80-p-pro1840 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown