C2 p.Tyr210Ter
c.630T>A · rs372423916 · VCV2876427
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 18 |
| REVEL | 0.261 | benign-leaning |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -15 | GERP -3.8 |
| Overall | ||
| CADD | 23.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- C2
- Protein
- p.Tyr210Ter
- Coding
- c.630T>A
- MANE Select
- NM_000063
- dbSNP
- rs372423916
- Type
- single nucleotide variant
- Location
- chr6:31933880 (GRCh38)
- Gene constraint
- LOEUF 0.909 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.61 · 14 PDB
- Residue 210
- an α-helix
Similar variants
- ZBTB12 p.Ile210Thr Uncertain significance ★ ⚠ same residue
- C2 p.Tyr210fs Pathogenic ★ same residue
- C2 c.1902+5G>A Uncertain significance ★★ same type
- C2 c.2029+5G>A Uncertain significance ★★ same type
- C2 p.Ala363Thr Uncertain significance ★★ ⚠ same type
- C2 p.Ala682Glu Uncertain significance ★★ ⚠ same type
- C2 p.Arg124Gln Uncertain significance ★★ ⚠ same type
- C2 p.Arg129His 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/c2-p-tyr210ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown