CEP170B p.Pro198=
c.594A>C · rs2028414 · VCV3058875
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 73.5%, mid) — too common for a highly-penetrant pathogenic allele
Conditions
1
CEP170B-related disorder
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 -0.89 | GERP -3 |
| Overall | ||
| CADD | 0.442 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
73.5%
Middle Eastern · 4,307/5,862 alleles
Filtering AF
71.6%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 70.9%
Overall
62.7%
959,378/1,529,066 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 73.5% | 1 |
| Ashkenazi Jewishnot grpmax-eligible | 70.1% | 1 |
| Finnishnot grpmax-eligible | 66% | 2 |
| European (non-Finnish) | 65.2% | 2 |
| Amishnot grpmax-eligible | 63.2% | 2 |
| Remaining individualsnot grpmax-eligible | 62% | 2 |
| South Asian | 62% | 2 |
| Admixed American | 55.5% | 2 |
| African / African-American | 50.7% | 2 |
| East Asian | 18.1% | 6 |
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
- CEP170B
- Protein
- p.Pro198=
- Coding
- c.594A>C
- MANE Select
- NM_001112726
- dbSNP
- rs2028414
- Type
- single nucleotide variant
- Location
- chr14:104883051 (GRCh38)
- Gene constraint
- LOEUF 0.682 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 47.31
- Residue 198
- the 'disordered' region
Disease context
CEP170B-related disorder
Similar variants
- CEP170B c.3879-7G>C Benign same condition
- CEP170B c.3879-8G>A Benign same condition
- CEP170B c.4271+8G>A Likely benign same condition
- CEP170B c.4365+7G>A Likely benign same condition
- CEP170B p.Ala1177= Likely benign same condition
- CEP170B p.Ala127= Likely benign same condition
- CEP170B p.Ala302Val Likely benign same condition
- CEP170B p.Ala369Val Likely benign 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/cep170b-p-pro198 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown