LRBA p.Ala514fs
c.1541_1554del · VCV4968818
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
LRBA-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 | predicted | premature termination codon in exon 12 of 57 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.2 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- LRBA
- Protein
- p.Ala514fs
- Coding
- c.1541_1554del
- MANE Select
- NM_001364905
- Type
- Deletion
- Location
- chr4:150906345 (GRCh38)
- Gene constraint
- LOEUF 0.515 · pLI <0.01 (gnomAD)
Disease context
LRBA-related disorder
Similar variants
- LRBA p.Ala514Val Uncertain significance ★★ ⚠ same residue
- LRBA c.4720_4729+3del Likely pathogenic ★ same condition
- LRBA p.Gln2621fs Likely pathogenic ★ same condition
- LRBA p.His1937fs Likely pathogenic ★ same condition
- LRBA p.Leu916fs Likely pathogenic ★ same condition
- LRBA p.Thr2631fs Likely pathogenic ★ same condition
- LRBA c.4159-1G>T Likely pathogenic ★★ same condition
- LRBA p.Arg1683Ter Pathogenic ★★ 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/lrba-p-ala514fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown