CEP192 p.Pro613=
c.1839A>G · rs145309087 · VCV775463
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.29%, afr)
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 1.2 | GERP -1.8, phastCons 1 |
| Overall | ||
| CADD | 11.11 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.29%
African / African-American · 2,447/74,464 alleles
Filtering AF
3.18%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.13%
Overall
0.174%
2,782/1,598,582 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.29% | 30 |
| Remaining individualsnot grpmax-eligible | 0.229% | 436 |
| Admixed American | 0.205% | 487 |
| Middle Eastern | 0.166% | 601 |
| South Asian | 0.00563% | 17,752 |
| European (non-Finnish) | 0.00496% | 20,176 |
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.Pro613=
- Coding
- c.1839A>G
- MANE Select
- NM_032142
- dbSNP
- rs145309087
- Type
- single nucleotide variant
- Location
- chr18:13040859 (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.Thr1053Ala Benign ★★ same type
- CEP192 p.Ala1008Val 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/cep192-p-pro613 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown