CHD7 p.Phe2124del
c.6369CTT[1] · rs2488042614 · VCV2733968
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
CHARGE syndrome
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 6 | GERP 2, phastCons 1 |
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.Phe2124del
- Coding
- c.6369CTT[1]
- MANE Select
- NM_017780
- dbSNP
- rs2488042614
- Type
- Microsatellite
- Location
- chr8:60853094 (GRCh38)
- Gene constraint
- LOEUF 0.109 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Similar variants
- CHD7 p.Phe2124Ser Likely pathogenic ★★ same residue
- CHD7 p.Glu974_Gly975insTer Pathogenic ★★ same condition
- CHD7 p.Thr64fs Pathogenic ★★ same condition
- CHD7 p.Val1141fs Pathogenic ★★ same condition
- CHD7 p.2760NLQ[1] Uncertain significance ★★ same condition
- CHD7 p.2760NLQ[3] Uncertain significance ★★ same condition
- CHD7 p.Glu771del Uncertain significance ★★ same condition
- CHD7 p.Pro516del 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/chd7-p-phe2124del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown