CCDC8 p.Asn366=
c.1098T>C · VCV4780534
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000254%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.004 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -9.4 | GERP -2.9 |
| Overall | ||
| CADD | 0.25 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000254%
European (non-Finnish) · 3/1,179,238 alleles
Filtering AF
6.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.9e-05%
Overall
0.000205%
3/1,461,260 alleles · very rare
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
- CCDC8
- Protein
- p.Asn366=
- Coding
- c.1098T>C
- MANE Select
- NM_032040
- Type
- single nucleotide variant
- Location
- chr19:46411713 (GRCh38)
- Gene constraint
- LOEUF 1.796 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 46.83 · 1 PDB
- Residue 366
- the 'disordered' region
Similar variants
- CCDC8 p.Ala217Thr Uncertain significance ★★ ⚠ same type
- CCDC8 p.Ala293Thr Uncertain significance ★★ ⚠ same type
- CCDC8 p.Ala393Val Uncertain significance ★★ ⚠ same type
- CCDC8 p.Ala527Val Uncertain significance ★★ ⚠ same type
- CCDC8 p.Arg15Gln Uncertain significance ★★ ⚠ same type
- CCDC8 p.Arg225Gly Uncertain significance ★★ ⚠ same type
- CCDC8 p.Arg277His Uncertain significance ★★ ⚠ same type
- CCDC8 p.Arg277Ser 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/ccdc8-p-asn366 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown