CEP170B p.Arg849=
c.2545C>A · rs199647851 · VCV2644625
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.388%, 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 1.6 | GERP 1.8, phastCons 0.002 |
| Overall | ||
| CADD | 3.926 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.388%
African / African-American · 291/75,048 alleles
Filtering AF
0.351%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.337%
Overall
0.0192%
310/1,611,614 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.388% | 258 |
| Admixed American | 0.0167% | 6,001 |
| Remaining individualsnot grpmax-eligible | 0.0112% | 8,922 |
| European (non-Finnish) | 0.00017% | 589,890 |
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.Arg849=
- Coding
- c.2545C>A
- MANE Select
- NM_001112726
- dbSNP
- rs199647851
- Type
- single nucleotide variant
- Location
- chr14:104886784 (GRCh38)
- Gene constraint
- LOEUF 0.682 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 47.31
- Residue 849
- the 'disordered' region
Similar variants
- CEP170B p.Arg849Gln Uncertain significance ★ same residue
- CEP170B p.Arg849Trp Uncertain significance ★ same residue
- CEP170B p.Lys368Glu Uncertain significance ★★ same type
- CEP170B p.Pro148Leu Uncertain significance ★★ same type
- CEP170B p.Ala259Val Benign ★★ same type
- CEP170B p.Arg147= Benign ★★ same type
- CEP170B p.Ala1053Val Uncertain significance ★ same type
- CEP170B p.Ala1062Val 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-arg849 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown