RELA p.Ala396fs
c.1184dup · VCV3774269
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (11 of 11) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.23 | GERP -0.32, phastCons 0.97 |
| Region caveats | ||
| Repeat context | tandem | G-rich low complexity, segmental duplication, simple repeat · ambiguous alignment · reads may not map uniquely · confidence, not pathogenicity |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- RELA
- Protein
- p.Ala396fs
- Coding
- c.1184dup
- MANE Select
- NM_021975
- Type
- Duplication
- Location
- chr11:65654849 (GRCh38)
- Gene constraint
- LOEUF 0.4 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 73.52 · 88 PDB
- Residue 396
- a UniProt-annotated variant site (found in a patient diagnosed with autoimmune lymphoproliferative syndrome; uncertain significance)
Similar variants
- RELA p.Arg41fs Pathogenic ★ same type
- RELA p.Asn137fs Pathogenic ★ same type
- RELA p.Glu473fs Pathogenic ★ same type
- RELA p.Ile118fs Pathogenic ★ same type
- RELA p.Tyr306Ter Pathogenic ★ same type
- RELA p.Tyr349fs Pathogenic ★ same type
- RELA p.Asp512fs Uncertain significance ★ same type
- RELA c.1034-16dup Likely 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/rela-p-ala396fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown