CD247 p.Lys136fs
c.399_405dup · VCV4920438
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
CD247-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon within the last 50 nt of the penultimate exon (7 of 8, 23 nt from its 3' end) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CD247
- Protein
- p.Lys136fs
- Coding
- c.399_405dup
- MANE Select
- NM_198053
- Type
- Duplication
- Location
- chr1:167433047 (GRCh38)
- Gene constraint
- LOEUF 0.633 · pLI 0.66 (gnomAD)
- Structure
- AlphaFold pLDDT 62.36 · 38 PDB
- Residue 136
- the itam 3 domain; the 'disordered' region
Disease context
CD247-related disorder
Similar variants
- CD247 p.Ile18fs Pathogenic/Likely pathogenic ★★ same condition
- CD247 p.Gln101Ter Pathogenic/Likely pathogenic ★★ same condition
- CD247 p.Phe24Cys Likely benign 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/cd247-p-lys136fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown