Is CHD7 p.Ser2906= (c.8718C>T) pathogenic?

CHD7 p.Ser2906= (c.8718C>T) is classified Likely benign in CHD7 (ClinVar, Multiple submitters, 7 submitters; last evaluated 2025-12-16). Ultra-rare (popmax 0.0181%, nfe); Associated with Inborn genetic diseases.

What condition is associated with CHD7 p.Ser2906= (c.8718C>T)?

CHD7 p.Ser2906= (c.8718C>T) is associated with Inborn genetic diseases, CHARGE syndrome (ClinVar).

How common is CHD7 p.Ser2906= (c.8718C>T) in the general population?

CHD7 p.Ser2906= (c.8718C>T) is ultra-rare (popmax 0.0181%, nfe) (gnomAD).

CHD7 p.Ser2906=

c.8718C>T · rs372889781 · VCV434760

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 7 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0181%, nfe)

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.8	GERP -1.5, phastCons 1
Overall
CADD	13.08	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0181% European (non-Finnish) · 213/1,176,052 alleles

Filtering AF 0.0161% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0153%

Overall 0.0145% 233/1,608,540 alleles · ultra-rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.0181%	5,521
Remaining individualsnot grpmax-eligible	0.0129%	7,776
Admixed American	0.00837%	11,949
African / African-American	0.00669%	14,946
Finnishnot grpmax-eligible	0.00313%	31,929

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: CHD7
Protein: p.Ser2906=
Coding: c.8718C>T
MANE Select: NM_017780
dbSNP: rs372889781
Type: single nucleotide variant
Location: chr8:60865657 (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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: CHARGE syndrome

Similar variants

CHD7 p.Ser2906Phe Uncertain significance ★ same residue
CHD7 c.2097-2A>G Pathogenic ★★ same condition
CHD7 c.2238+1G>A Pathogenic ★★ same condition
CHD7 c.2377-1G>A Likely pathogenic ★★ same condition
CHD7 c.2613+1G>A Pathogenic/Likely pathogenic ★★ same condition
CHD7 c.2836-1G>A Pathogenic/Likely pathogenic ★★ same condition
CHD7 c.2836-2A>T Pathogenic ★★ same condition
CHD7 c.2957+2T>C 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/chd7-p-ser2906 (accessed [today's date]).

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