C2 c.*82C>T
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0454%, nfe)
Conditions
1
age related macular degeneration 14
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 0.064 | GERP -2.1 |
| Non-coding constraint | Z 5.28 | 1 kb window · o/e 0.65 · regional · uncalibrated |
| Overall | ||
| CADD | 8.705 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0454%
European (non-Finnish) · 406/894,120 alleles
Filtering AF
0.0417%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0403%
Overall
0.0343%
442/1,289,422 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0454% | 2,202 |
| Remaining individualsnot grpmax-eligible | 0.0288% | 3,467 |
| Admixed American | 0.0253% | 3,946 |
| Finnishnot grpmax-eligible | 0.00739% | 13,532 |
| African / African-American | 0.00291% | 34,340 |
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
- C2
- Coding
- c.*82C>T
- MANE Select
- NM_000063
- dbSNP
- rs747202032
- Type
- single nucleotide variant
- Location
- chr6:31945439 (GRCh38)
- Gene constraint
- LOEUF 0.909 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.61 · 14 PDB
Similar variants
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- C2 p.Asp390Ala Uncertain significance ★★ ⚠ same condition
- C2 p.Asp661Asn Uncertain significance ★★ ⚠ same condition
- C2 p.Lys572Asn Uncertain significance ★★ ⚠ same condition
- C2 p.Phe273= Uncertain significance ★★ same condition
- C2 p.Phe95Val Uncertain significance ★★ ⚠ same condition
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/c2-c-star-82c-t (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown