Is TAF4 p.Ser809fs (c.2425dup) pathogenic?

TAF4 p.Ser809fs (c.2425dup) is classified Pathogenic in TAF4 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-12-01). Associated with intellectual developmental disorder, autosomal dominant 73.

What condition is associated with TAF4 p.Ser809fs (c.2425dup)?

TAF4 p.Ser809fs (c.2425dup) is associated with intellectual developmental disorder, autosomal dominant 73 (ClinVar).

TAF4 p.Ser809fs

c.2425dup · VCV4818966

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

intellectual developmental disorder, autosomal dominant 73

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 9 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 2, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: TAF4
Protein: p.Ser809fs
Coding: c.2425dup
MANE Select: NM_003185
Type: Duplication
Location: chr20:62003220 (GRCh38)
Gene constraint: LOEUF 0.205 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 54.71 · 32 PDB
Residue 809: a UniProt-annotated variant site (in mrd73; likely pathogenic)

Full TAF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

intellectual developmental disorder, autosomal dominant 73 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

TAF4 p.Gly171fs Likely pathogenic ★★ same condition
TAF4 p.Ala212fs Pathogenic ★ same condition
TAF4 p.Asn818fs Pathogenic same condition
TAF4 p.Ala253fs Likely pathogenic ★ same condition
TAF4 p.Arg1054fs Likely pathogenic ★ same condition
TAF4 p.Gln239Ter Likely pathogenic ★ same condition
TAF4 p.Gln450Ter Pathogenic ★ same condition
TAF4 p.Gln735Ter 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/taf4-p-ser809fs (accessed [today's date]).

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