CRYBB3 p.Ter212Arg
c.634T>C · rs864309700 · VCV217351
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
stop-loss
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Developmental cataract
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | stop-loss | predicted loss-of-function |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.6 | GERP 1.5, phastCons 1 |
| Overall | ||
| CADD | 16.36 | 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
- CRYBB3
- Protein
- p.Ter212Arg
- Coding
- c.634T>C
- MANE Select
- NM_004076
- dbSNP
- rs864309700
- Type
- single nucleotide variant
- Location
- chr22:25207210 (GRCh38)
- Gene constraint
- LOEUF 1.588 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.52 · 1 PDB
Similar variants
- CRYBB3 p.Gly165Arg Pathogenic same condition
- CRYBB3 p.Arg127Cys Uncertain significance ★★ ⚠ same type
- CRYBB3 p.Arg127His Uncertain significance ★★ ⚠ same type
- CRYBB3 p.Arg152Cys Uncertain significance ★★ ⚠ same type
- CRYBB3 p.Arg169Cys Uncertain significance ★★ ⚠ same type
- CRYBB3 p.Arg179His Uncertain significance ★★ ⚠ same type
- CRYBB3 p.Arg196His Uncertain significance ★★ ⚠ same type
- CRYBB3 p.Arg207His 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/crybb3-p-ter212arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown