FLCN p.Pro93fs
c.278del · VCV4281678
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Pneumothorax - familial
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 haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -14 | GERP -2.9 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FLCN
- Protein
- p.Pro93fs
- Coding
- c.278del
- MANE Select
- NM_144997
- Type
- Deletion
- Location
- chr17:17226294 (GRCh38)
- Gene constraint
- LOEUF 0.487 · pLI 0.99 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 79.14 · 4 PDB
- Residue 93
- the udenn flcn/smcr8-type domain; an α-helix
Disease context
Pneumothorax - familial
Similar variants
- FLCN p.Ala6fs Pathogenic ★★ same condition
- FLCN p.Lys508del Pathogenic/Likely pathogenic ★★ same condition
- FLCN p.Phe465fs Pathogenic/Likely pathogenic ★★ same condition
- FLCN p.Ser72fs Pathogenic ★★ same condition
- FLCN p.Ser79fs Pathogenic ★★ same condition
- FLCN p.Pro93Ala Uncertain significance ★★ ⚠ same residue
- FLCN p.Pro93Arg Uncertain significance ★★ ⚠ same residue
- FLCN p.Pro93Ser Uncertain significance ★★ ⚠ same residue
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/flcn-p-pro93fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown