CCDC85C p.His63=
c.189C>T · VCV4221658
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.261%, 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 5.8 | GERP -0.68, phastCons 1 |
| Overall | ||
| CADD | 13.84 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.261%
African / African-American · 187/71,768 alleles
Filtering AF
0.23%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.218%
Overall
0.0136%
208/1,526,250 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.261% | 384 |
| Middle Eastern | 0.0342% | 2,925 |
| Admixed American | 0.016% | 6,262 |
| Remaining individualsnot grpmax-eligible | 0.0134% | 7,450 |
| East Asian | 0.00251% | 39,824 |
| South Asian | 0.00243% | 41,209 |
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
- CCDC85C
- Protein
- p.His63=
- Coding
- c.189C>T
- MANE Select
- NM_001144995
- Type
- single nucleotide variant
- Location
- chr14:99603771 (GRCh38)
- Gene constraint
- LOEUF 0.947 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.38
Similar variants
- CCNK p.Pro462Thr Uncertain significance ★★ ⚠ same type
- CCNK p.Val333Phe Uncertain significance ★★ ⚠ same type
- CCNK p.Pro484= Likely benign ★★ same type
- CCDC85C p.Ala102Val Uncertain significance ★ ⚠ same type
- CCDC85C p.Ala11Ser Uncertain significance ★ ⚠ same type
- CCDC85C p.Ala156Thr Uncertain significance ★ ⚠ same type
- CCDC85C p.Ala156Val Uncertain significance ★ ⚠ same type
- CCDC85C p.Ala157Val 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/ccdc85c-p-his63 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown