BDNF p.Trp204fs
c.610del · rs2538961475 · VCV2845218
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 | escapes | premature termination codon in the last exon (2 of 2) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 2.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- BDNF
- Protein
- p.Trp204fs
- Coding
- c.610del
- MANE Select
- NM_001709
- dbSNP
- rs2538961475
- Type
- Deletion
- Location
- chr11:27657955 (GRCh38)
- Gene constraint
- LOEUF 0.233 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 71.44 · 2 PDB
- Residue 204
- a β-strand; a disulfide bond
Similar variants
- BDNF c.-21-15685_-21-15684del Uncertain significance ★ same type
- BDNF p.Ile10_Ser11insTer Uncertain significance ★ same type
- BDNF c.-21-15601_-21-15600del Likely benign ★ same type
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/bdnf-p-trp204fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown