CEP170B p.Ser1135=
c.3405A>G · rs2841240 · VCV3039936
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.726%, afr)
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 -3.8 | GERP -3.2 |
| Overall | ||
| CADD | 0.183 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.726%
African / African-American · 537/73,946 alleles
Filtering AF
0.675%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.655%
Overall
0.0383%
598/1,561,846 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.726% | 138 |
| Remaining individualsnot grpmax-eligible | 0.0677% | 1,477 |
| Admixed American | 0.0359% | 2,788 |
| European (non-Finnish) | 8.65e-05% | 1,156,080 |
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.Ser1135=
- Coding
- c.3405A>G
- MANE Select
- NM_001112726
- dbSNP
- rs2841240
- Type
- single nucleotide variant
- Location
- chr14:104887644 (GRCh38)
- Gene constraint
- LOEUF 0.682 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 47.31
- Residue 1135
- a modified residue (phosphoserine); 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-ser1135 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown