CEP120 p.Val729=
c.2187G>A · rs192078531 · VCV1551614
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.114%, amr)
Conditions
1
short-rib thoracic dysplasia 13 with or without polydactyly
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 -2.3 | GERP -3.7 |
| Overall | ||
| CADD | 0.193 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.114%
Admixed American · 66/57,690 alleles
Filtering AF
0.0922%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0842%
Overall
0.00499%
80/1,603,356 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.114% | 874 |
| Remaining individualsnot grpmax-eligible | 0.0161% | 6,201 |
| African / African-American | 0.00542% | 18,458 |
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
- CEP120
- Protein
- p.Val729=
- Coding
- c.2187G>A
- MANE Select
- NM_001375405
- dbSNP
- rs192078531
- Type
- single nucleotide variant
- Location
- chr5:123378345 (GRCh38)
- Gene constraint
- LOEUF 0.93 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.22 · 4 PDB
Similar variants
- CEP120 p.Val729Met Uncertain significance ★★ ⚠ same residue
- CEP120 c.1255+1G>A Likely pathogenic ★★ same condition
- CEP120 c.2580+2T>A Likely pathogenic ★★ same condition
- CEP120 p.Ala199Pro Pathogenic/Likely pathogenic ★★ same condition
- CEP120 p.Arg722Ter Pathogenic/Likely pathogenic ★★ same condition
- CEP120 p.Gln775Ter Pathogenic/Likely pathogenic ★★ same condition
- CEP120 p.Lys539Ter Pathogenic/Likely pathogenic ★★ same condition
- CEP120 c.1038+6T>C Uncertain significance ★★ same condition
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/cep120-p-val729 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown