FAS p.Arg200fs
c.598dup · VCV4908672
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
FAS-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 in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.1 | GERP -1.8 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FAS
- Protein
- p.Arg200fs
- Coding
- c.598dup
- MANE Select
- NM_000043
- Type
- Duplication
- Location
- chr10:89012027 (GRCh38)
- Gene constraint
- LOEUF 0.372 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 78.21 · 7 PDB
Disease context
FAS-related disorder
Similar variants
- FAS c.196+1G>A Pathogenic/Likely pathogenic ★★ same condition
- FAS p.Arg250Gly Likely pathogenic ★★ same condition
- FAS p.Cys135Tyr Likely pathogenic ★★ same condition
- FAS p.Glu272Lys Pathogenic/Likely pathogenic ★★ same condition
- FAS p.Arg121Trp Uncertain significance ★★ ⚠ same condition
- FAS p.Thr163Ile Uncertain significance ★★ same condition
- FAS c.569-1G>A Likely pathogenic ★ same condition
- FAS p.Asp260His 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/fas-p-arg200fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown