ERBB3 p.Cys243=
c.729C>T · VCV4732524
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
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. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.9 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 13.32 | PHRED · no single calibrated threshold — expert panels disagree |
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
- ERBB3
- Protein
- p.Cys243=
- Coding
- c.729C>T
- MANE Select
- NM_001982
- Type
- single nucleotide variant
- Location
- chr12:56087910 (GRCh38)
- Gene constraint
- LOEUF 0.695 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.90 · 23 PDB
- Residue 243
- a β-strand; a disulfide bond
Similar variants
- ERBB3 p.Ile703Leu Uncertain significance ★★ ⚠ same type
- ERBB3 p.Lys747Asn Uncertain significance ★★ ⚠ same type
- ERBB3 p.Pro1142Leu Uncertain significance ★★ ⚠ same type
- ERBB3 p.Pro238Leu Uncertain significance ★★ ⚠ same type
- ERBB3 p.Trp373Arg Uncertain significance ★★ ⚠ same type
- ERBB3 c.1109+202A>G Likely benign ★★ same type
- ERBB3 c.1109+207G>A Benign ★★ same type
- ERBB3 c.1860-128G>A Benign ★★ 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/erbb3-p-cys243 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown