CEP170B p.Arg147=
c.439A>C · rs112026036 · VCV787955
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.01%, 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 3.2 | GERP 0.072, phastCons 1 |
| Overall | ||
| CADD | 7.692 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.01%
African / African-American · 1,509/74,970 alleles
Filtering AF
1.93%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.89%
Overall
0.124%
2,006/1,612,588 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.01% | 50 |
| Middle Eastern | 0.644% | 155 |
| Remaining individualsnot grpmax-eligible | 0.245% | 408 |
| Admixed American | 0.167% | 600 |
| South Asian | 0.0198% | 5,056 |
| European (non-Finnish) | 0.0159% | 6,308 |
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.Arg147=
- Coding
- c.439A>C
- MANE Select
- NM_001112726
- dbSNP
- rs112026036
- Type
- single nucleotide variant
- Location
- chr14:104880392 (GRCh38)
- Gene constraint
- LOEUF 0.682 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 47.31
- Residue 147
- the 'disordered' region
Similar variants
- CEP170B p.Lys368Glu Uncertain significance ★★ same type
- CEP170B p.Pro148Leu Uncertain significance ★★ same type
- CEP170B p.Ala259Val Benign ★★ same type
- CEP170B p.Ala1053Val Uncertain significance ★ same type
- CEP170B p.Ala1062Val Uncertain significance ★ same type
- CEP170B p.Ala1083Val Uncertain significance ★ same type
- CEP170B p.Ala1091Thr Uncertain significance ★ same type
- CEP170B p.Ala1123Thr 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/cep170b-p-arg147 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown