Is BDNF p.Tyr182= (c.546C>T) pathogenic?

BDNF p.Tyr182= (c.546C>T) is classified Benign in BDNF (ClinVar, Single submitter, 2 submitters; last evaluated 2024-04-12). Rare (popmax 0.212%, amr).

How common is BDNF p.Tyr182= (c.546C>T) in the general population?

BDNF p.Tyr182= (c.546C>T) is rare (popmax 0.212%, amr) (gnomAD).

BDNF p.Tyr182=

c.546C>T · rs74975314 · VCV712726

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

rare (popmax 0.212%, amr)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 5.2	GERP -1, phastCons 1
Overall
CADD	13.25	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.212% Admixed American · 127/60,004 alleles

Filtering AF 0.182% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.17%

Overall 0.0112% 181/1,614,104 alleles · rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.212%	472
Remaining individualsnot grpmax-eligible	0.016%	6,251
South Asian	0.00549%	18,217
African / African-American	0.00533%	18,755
East Asian	0.00446%	22,436
European (non-Finnish)	0.0028%	35,759

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.Tyr182=
Coding: c.546C>T
dbSNP: rs74975314
Type: single nucleotide variant
Location: chr11:27658019 (GRCh38)

Full BDNF gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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-tyr182 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown