Is CHD5 p.Ser205fs (c.612dup) pathogenic?

CHD5 p.Ser205fs (c.612dup) is classified Likely pathogenic in CHD5 (ClinVar, Single submitter, 2 submitters; last evaluated 2021-01-18). No gnomAD frequency available for this variant; Associated with Global developmental delay.

What condition is associated with CHD5 p.Ser205fs (c.612dup)?

CHD5 p.Ser205fs (c.612dup) is associated with Global developmental delay, parenti-mignot neurodevelopmental syndrome (ClinVar).

How common is CHD5 p.Ser205fs (c.612dup) in the general population?

CHD5 p.Ser205fs (c.612dup) is no gnomAD frequency available for this variant (gnomAD).

CHD5 p.Ser205fs

c.612dup · rs2100868745 · VCV995776

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Global developmental delay

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2, phastCons 1

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

Population frequency

dbSNP / gnomAD

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: CHD5
Protein: p.Ser205fs
Coding: c.612dup
MANE Select: NM_015557
dbSNP: rs2100868745
Type: Duplication
Location: chr1:6154792 (GRCh38)
Structure: AlphaFold pLDDT 78.15 · 4 PDB

Full CHD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Global developmental delay — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: parenti-mignot neurodevelopmental syndrome

Similar variants

CHD5 p.Ile281fs Likely pathogenic ★ same condition
CHD5 c.4171+1G>A Pathogenic/Likely pathogenic ★★ same condition
CHD5 p.Arg193Trp Pathogenic/Likely pathogenic ★★ same condition
CHD5 p.Pro1124Leu Pathogenic/Likely pathogenic ★★ same condition
CHD5 p.Ser912Phe Pathogenic/Likely pathogenic ★★ same condition
CHD5 c.79+5G>A Uncertain significance ★★ same condition
CHD5 p.Ala215Val Uncertain significance ★★ same condition
CHD5 p.Asp23Asn Uncertain significance ★★ ⚠ 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/chd5-p-ser205fs (accessed [today's date]).

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