UNC13D p.Asp324fs
c.970del · VCV3727905
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
familial hemophagocytic lymphohistiocytosis 3
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 32 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5 | phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- UNC13D
- Protein
- p.Asp324fs
- Coding
- c.970del
- MANE Select
- NM_199242
- Type
- Deletion
- Location
- chr17:75839924 (GRCh38)
- Gene constraint
- LOEUF 0.923 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.04 · 1 PDB
- Residue 324
- the 'interaction with rab27a' region
Disease context
familial hemophagocytic lymphohistiocytosis 3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Familial hemophagocytic lymphohistiocytosis (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Infancy
- Prevalence
- 1-9 / 100 000 (Sweden)
Similar variants
- UNC13D p.Asp324= Conflicting classifications of pathogenicity ★ same residue
- UNC13D p.Asp324Glu Uncertain significance ★ ⚠ same residue
- UNC13D p.Arg610_Gln613del Pathogenic ★★ same condition
- UNC13D p.Arg782fs Pathogenic ★★ same condition
- UNC13D p.Asn1050fs Likely pathogenic ★★ same condition
- UNC13D p.Asp236fs Pathogenic ★★ same condition
- UNC13D p.Cys255fs Pathogenic ★★ same condition
- UNC13D p.Leu54fs Pathogenic/Likely 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/unc13d-p-asp324fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown