CD46 p.Tyr95fs
c.283dup · VCV4930665
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
CD46-related disorders
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 1.6, phastCons 1 |
| Region caveats | ||
| Repeat context | seg dup | · reads may not map uniquely · confidence, not pathogenicity |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CD46
- Protein
- p.Tyr95fs
- Coding
- c.283dup
- MANE Select
- NM_172351
- Type
- Duplication
- Location
- chr1:207757197 (GRCh38)
- Gene constraint
- LOEUF 0.763 · pLI 0.04 (gnomAD)
- Structure
- AlphaFold pLDDT 82.38 · 7 PDB
- Residue 95
- the sushi 1 domain; a β-strand
Disease context
CD46-related disorders
Similar variants
- CD46 p.Asp198fs Likely pathogenic ★ same condition
- CD46 p.Tyr95= Conflicting classifications of pathogenicity ★ same residue
- CD46 c.286+1G>C Pathogenic/Likely pathogenic ★★ same condition
- CD46 p.Arg229Ter Pathogenic/Likely pathogenic ★★ same condition
- CD46 p.Arg59Ter Pathogenic/Likely pathogenic ★★ same condition
- CD46 p.Arg82Trp Uncertain significance ★★ ⚠ same condition
- CD46 p.Thr207Met Uncertain significance ★★ ⚠ same condition
- CD46 p.Thr267Ala 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/cd46-p-tyr95fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown