BDNF p.Thr91=
c.273G>A · rs150767807 · VCV1572707
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0825%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.32 | GERP -5.8, phastCons 0.003 |
| Overall | ||
| CADD | 6.809 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0825%
Middle Eastern · 5/6,062 alleles
Filtering AF
0.0387%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0339%
Overall
0.0147%
237/1,614,080 alleles · ultra-rare
exomes 210/1,461,838 · genomes 27/152,242 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0825% | 1,212 |
| Admixed American | 0.0533% | 1,875 |
| Remaining individualsnot grpmax-eligible | 0.024% | 4,167 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0236% | 4,230 |
| African / African-American | 0.0213% | 4,690 |
| European (non-Finnish) | 0.0134% | 7,468 |
| South Asian | 0.00329% | 30,361 |
| Finnishnot grpmax-eligible | 0.00156% | 63,966 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- BDNF
- Protein
- p.Thr91=
- Coding
- c.273G>A
- MANE Select
- NM_001709
- dbSNP
- rs150767807
- Type
- single nucleotide variant
- Location
- chr11:27658292 (GRCh38)
- Gene constraint
- LOEUF 0.233 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 71.44 · 2 PDB
Similar variants
- BDNF p.Thr91Lys Uncertain significance ⚠ same residue
- BDNF c.-21-1044G>C Benign ★★ same type
- BDNF c.-21-1065G>A Benign ★★ same type
- BDNF c.-21-15778G>T Benign ★★ same type
- BDNF c.-22+774G>A Benign ★★ same type
- BDNF p.Ala150= Benign ★★ same type
- BDNF p.Asp86= Likely benign ★★ same type
- BDNF p.Gly161= 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-thr91 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown