CDC27 p.Pro286=
c.858A>G · rs61749925 · VCV782550
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.32%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.20 | acceptor loss, 5 bp away · masked 0 · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 6.2 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 13.52 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.32%
Middle Eastern · 137/5,910 alleles
Filtering AF
2%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.88%
Overall
0.339%
5,376/1,586,894 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 2.32% | 43 |
| Ashkenazi Jewishnot grpmax-eligible | 1.3% | 77 |
| Remaining individualsnot grpmax-eligible | 0.422% | 237 |
| European (non-Finnish) | 0.361% | 277 |
| Admixed American | 0.331% | 302 |
| South Asian | 0.101% | 990 |
| African / African-American | 0.0967% | 1,034 |
| Finnishnot grpmax-eligible | 0.0939% | 1,065 |
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
- CDC27
- Protein
- p.Pro286=
- Coding
- c.858A>G
- MANE Select
- NM_001256
- dbSNP
- rs61749925
- Type
- single nucleotide variant
- Location
- chr17:47154771 (GRCh38)
- Gene constraint
- LOEUF 0.38 · pLI 0.96 (gnomAD)
- Structure
- AlphaFold pLDDT 70.02 · 25 PDB
Similar variants
- CDC27 c.27+2T>C Uncertain significance ★ same type
- CDC27 p.Ala586= Likely benign ★ same type
- CDC27 p.Leu173= Likely benign ★ same type
- CDC27 p.Pro421= Likely benign ★ same type
- CDC27 p.Thr167= Likely benign ★ same type
- CDC27 p.Thr171= Likely benign ★ same type
- CDC27 p.Thr409= Likely benign ★ same type
- CDC27 p.Thr446= Likely benign ★ 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/cdc27-p-pro286 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown