Is CHD8 c.4729del pathogenic?

CHD8 c.4729del is classified Pathogenic in CHD8 (ClinVar, Single submitter, 1 submitter). Associated with intellectual developmental disorder with autism and macrocephaly.

What condition is associated with CHD8 c.4729del?

CHD8 c.4729del is associated with intellectual developmental disorder with autism and macrocephaly (ClinVar).

How is CHD8 overgrowth syndrome inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

CHD8 c.4729del

VCV4796509

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

intellectual developmental disorder with autism and macrocephaly

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2.5, phastCons 1
Non-coding constraint	Z 4.22	1 kb window · o/e 0.71 · regional · uncalibrated

Variant & gene context

Gene: CHD8
Coding: c.4729del
MANE Select: NM_001170629
Type: Deletion
Location: chr14:21400069 (GRCh38)
Gene constraint: LOEUF 0.154 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 55.17 · 2 PDB

Full CHD8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

intellectual developmental disorder with autism and macrocephaly — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For CHD8 overgrowth syndrome (Orphanet):

Inheritance: Autosomal dominant
Onset: No data available

Similar variants

CHD8 p.Arg2150fs Pathogenic/Likely pathogenic ★★ same condition
CHD8 p.Lys1537_Val1538insTer Likely pathogenic ★★ same condition
CHD8 c.4727+1del Likely pathogenic ★ same condition
CHD8 p.Arg1895fs Likely pathogenic ★ same condition
CHD8 p.Asn855fs Pathogenic ★ same condition
CHD8 p.Asp1686_Phe1687insTer Likely pathogenic ★ same condition
CHD8 p.Gln1520fs Pathogenic ★ same condition
CHD8 p.Gln687_Leu688insTer 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/chd8-c-4729del (accessed [today's date]).

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