C7 p.Ser795=
c.2385G>A · rs751682564 · VCV3049747
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0164%, mid)
Conditions
1
C7-related disorder
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 -6.2 | GERP -5 |
| Overall | ||
| CADD | 2.692 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0164%
Middle Eastern · 1/6,080 alleles
Filtering AF
0.000764%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000605%
Overall
0.00112%
18/1,613,072 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0164% | 6,080 |
| South Asian | 0.0022% | 45,426 |
| European (non-Finnish) | 0.00127% | 78,637 |
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
- C7
- Protein
- p.Ser795=
- Coding
- c.2385G>A
- MANE Select
- NM_001565 · reported on NM_000587
- dbSNP
- rs751682564
- Type
- single nucleotide variant
- Location
- chr5:40981426 (GRCh38)
- Structure
- AlphaFold pLDDT 89.67 · 6 PDB
Disease context
C7-related disorder
Similar variants
- C7 p.Ser795Leu Uncertain significance ★★ ⚠ same residue
- C7 c.739-2A>G Likely pathogenic ★★ same condition
- C7 p.Arg402Ter Pathogenic/Likely pathogenic ★★ same condition
- C7 p.Gly379Arg Pathogenic/Likely pathogenic ★★ ⚠ same condition
- C7 p.Asn494Lys Uncertain significance ★★ ⚠ same condition
- C7 c.2166-1G>A Likely pathogenic ★ same condition
- C7 c.982+2T>C Likely pathogenic ★ same condition
- C7 p.Gln367Ter Likely 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/c7-p-ser795 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown