FLNA p.Val472fs
c.1414dup · VCV3759958
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
4
Melnick-Needles syndrome
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 9 of 48 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FLNA
- Protein
- p.Val472fs
- Coding
- c.1414dup
- MANE Select
- NM_001110556
- Type
- Duplication
- Location
- chrX:154366038 (GRCh38)
- Structure
- AlphaFold pLDDT 77.37 · 26 PDB
Similar variants
- FLNA p.Ala843fs Pathogenic ★★ same condition
- FLNA p.Leu1483fs Pathogenic ★★ same condition
- FLNA p.Asp1692_Asp1697dup Uncertain significance ★★ same condition
- FLNA c.2945-15dup Likely benign ★★ same condition
- FLNA c.4142+5_4142+14dup Benign/Likely benign ★★ same condition
- FLNA p.Val21dup Benign/Likely benign ★★ same condition
- FLNA c.3980-5_3990dup Likely pathogenic ★ same condition
- FLNA p.Ala1063fs 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/flna-p-val472fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown