Is CHD7 p.Asp2476fs (c.7426dup) pathogenic?

CHD7 p.Asp2476fs (c.7426dup) is classified Pathogenic in CHD7 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-10-01). No gnomAD frequency available for this variant.

How common is CHD7 p.Asp2476fs (c.7426dup) in the general population?

CHD7 p.Asp2476fs (c.7426dup) is no gnomAD frequency available for this variant (gnomAD).

CHD7 p.Asp2476fs

c.7426dup · rs2488076177 · VCV1879715

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 34 of 38
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.99	GERP -3.7, phastCons 0.004

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: CHD7
Protein: p.Asp2476fs
Coding: c.7426dup
MANE Select: NM_017780
dbSNP: rs2488076177
Type: Duplication
Location: chr8:60856705 (GRCh38)
Gene constraint: LOEUF 0.109 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)

Full CHD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CHD7 p.Asp2476= Likely benign ★★ same residue
CHD7 p.Asp2988fs Pathogenic/Likely pathogenic ★★ same type
CHD7 p.Asp652fs Pathogenic/Likely pathogenic ★★ same type
CHD7 p.Glu664fs Pathogenic ★★ same type
CHD7 p.Leu2916fs Pathogenic/Likely pathogenic ★★ same type
CHD7 p.Lys643fs Pathogenic ★★ same type
CHD7 p.Tyr2601fs Pathogenic/Likely pathogenic ★★ same type
CHD7 p.Tyr2601Ter Pathogenic ★★ 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/chd7-p-asp2476fs (accessed [today's date]).

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