COX7B c.*5C>A
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,186,143)
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 1.6 | GERP -0.79, phastCons 0.29 |
| Non-coding constraint | — | not assessed · autosomes only, so chrX has no window · absence ≠ unconstrained |
| Overall | ||
| CADD | 8.978 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,186,143). 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
- COX7B
- Coding
- c.*5C>A
- MANE Select
- NM_001866
- dbSNP
- rs781818697
- Type
- single nucleotide variant
- Location
- chrX:77905266 (GRCh38)
- Structure
- AlphaFold pLDDT 90.15 · 3 PDB
Similar variants
- COX7B p.Arg29His Uncertain significance ★★ ⚠ same type
- COX7B c.165+10A>G Benign ★★ same type
- COX7B c.*82G>T Likely benign ★★ same type
- COX7B p.Ser16Arg Benign ★★ ⚠ same type
- COX7B c.40+5G>C Likely pathogenic ★ same type
- COX7B p.Ala57Ser Uncertain significance ★ ⚠ same type
- COX7B p.Asn79Asp Uncertain significance ★ ⚠ same type
- COX7B p.Leu66Val Uncertain significance ★ ⚠ 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/cox7b-c-star-5c-a (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown