CEP192 p.Ser2085=
c.6255C>T · VCV3490646
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0627%, eas)
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 0.25 | GERP -1.7, phastCons 0.98 |
| Overall | ||
| CADD | 6.11 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0627%
East Asian · 28/44,630 alleles
Filtering AF
0.0445%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0384%
Overall
0.00529%
84/1,587,924 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0627% | 1,594 |
| South Asian | 0.0116% | 8,619 |
| Remaining individualsnot grpmax-eligible | 0.00489% | 20,437 |
| European (non-Finnish) | 0.0035% | 28,560 |
| Admixed American | 0.00188% | 53,052 |
| African / African-American | 0.00137% | 73,230 |
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
- CEP192
- Protein
- p.Ser2085=
- Coding
- c.6255C>T
- MANE Select
- NM_032142
- Type
- single nucleotide variant
- Location
- chr18:13095503 (GRCh38)
- Gene constraint
- LOEUF 0.61 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 51.37 · 6 PDB
Similar variants
- CEP192 p.Ala2312Val Uncertain significance ★★ ⚠ same type
- CEP192 p.Gly37Val Uncertain significance ★★ same type
- CEP192 p.Asn1883Ser Benign ★★ same type
- CEP192 p.Gly1571= Benign ★★ same type
- CEP192 p.Leu111Phe Benign ★★ same type
- CEP192 p.Pro1159Arg Benign ★★ same type
- CEP192 p.Pro613= Benign ★★ same type
- CEP192 p.Thr1053Ala Benign ★★ 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/cep192-p-ser2085 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown