CD55 p.Tyr224fs
c.670dup · rs1654921932 · VCV2005054
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 1.73e-06)
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 6 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.7 | GERP -0.59, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
0.000173%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- CD55
- Protein
- p.Tyr224fs
- Coding
- c.670dup
- MANE Select
- NM_000574
- dbSNP
- rs1654921932
- Type
- Duplication
- Location
- chr1:207331110 (GRCh38)
- Gene constraint
- LOEUF 1.234 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.99 · 33 PDB
- Residue 224
- the sushi 4 domain
Similar variants
- CD55 p.Tyr224Cys Uncertain significance ★ ⚠ same residue
- CD55 c.1082-8dup Likely benign ★★ same type
- CD55 p.Ser88fs Pathogenic ★ same type
- CD55 p.Thr123fs Pathogenic ★ same type
- CD55 p.Thr289fs Pathogenic ★ same type
- CD55 p.Met1fs Uncertain significance ★ same type
- CD55 c.664+15dup 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/cd55-p-tyr224fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown