CEP120 p.Gln71=
c.213G>A · rs1276747636 · VCV2722211
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0166%, mid)
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 -0.93 | GERP -0.98, phastCons 0.002 |
| Overall | ||
| CADD | 3.939 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0166%
Middle Eastern · 1/6,020 alleles
Filtering AF
0.00025%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00016%
Overall
0.000692%
10/1,445,226 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0166% | 6,020 |
| Remaining individualsnot grpmax-eligible | 0.00323% | 30,916 |
| European (non-Finnish) | 0.0006% | 166,682 |
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.Gln71=
- Coding
- c.213G>A
- MANE Select
- NM_001375405
- dbSNP
- rs1276747636
- Type
- single nucleotide variant
- Location
- chr5:123416118 (GRCh38)
- Gene constraint
- LOEUF 0.93 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.22 · 4 PDB
- Residue 71
- the c2 1 domain; an α-helix
Similar variants
- CEP120 p.Gln71Arg 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-gln71 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown