C2CD6 p.Ala827Asp
c.2480C>A · VCV3483601
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00148%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.045 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.56 | GERP -2.5 |
| Regional constraint | o/e 0.80 | unconstrained · MANE · 49 kb · p 7.7e-16 · regional, not allelic |
| Overall | ||
| CADD | 12.98 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00148%
European (non-Finnish) · 17/1,146,574 alleles
Filtering AF
0.000903%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000738%
Overall
0.00117%
18/1,536,482 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00148% | 67,445 |
| African / African-American | 0.00137% | 72,958 |
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
- C2CD6
- Protein
- p.Ala827Asp
- Coding
- c.2480C>A
- MANE Select
- NM_001168221
- Type
- single nucleotide variant
- Location
- chr2:201493861 (GRCh38)
- Gene constraint
- LOEUF 0.908 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 39.82
Similar variants
- C2CD6 p.Ala1682Thr Uncertain significance ★ same type
- C2CD6 p.Ala427Gly Uncertain significance ★ ⚠ same type
- C2CD6 p.Ala54Pro Uncertain significance ★ ⚠ same type
- C2CD6 p.Ala54Ser Uncertain significance ★ ⚠ same type
- C2CD6 p.Ala646Ser Uncertain significance ★ same type
- C2CD6 p.Arg1134Cys Uncertain significance ★ same type
- C2CD6 p.Arg1134His Uncertain significance ★ same type
- C2CD6 p.Arg1163Ser 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/c2cd6-p-ala827asp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown