CHD7 p.Ser2041=
c.6123C>T · rs2150809472 · VCV1284551
Benign/Likely benign
No assertion criteria
Classification
Benign/Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -0.16 | GERP -3.9 |
| Overall | ||
| CADD | 6.046 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CHD7
- Protein
- p.Ser2041=
- Coding
- c.6123C>T
- MANE Select
- NM_017780
- dbSNP
- rs2150809472
- Type
- single nucleotide variant
- Location
- chr8:60852848 (GRCh38)
- Gene constraint
- LOEUF 0.109 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Similar variants
- CHD7 p.Ser2041Phe Uncertain significance ★★ ⚠ same residue
- CHD7 c.2097-2A>G Pathogenic ★★ same type
- CHD7 c.2238+1G>A Pathogenic ★★ same type
- CHD7 c.2377-1G>A Likely pathogenic ★★ same type
- CHD7 c.2613+1G>A Pathogenic/Likely pathogenic ★★ same type
- CHD7 c.2836-1G>A Pathogenic/Likely pathogenic ★★ same type
- CHD7 c.2836-2A>T Pathogenic ★★ same type
- CHD7 c.2957+2T>C 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-ser2041 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown