C7 p.Gln61=
c.183G>A · rs34196526 · VCV1169027
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.27%, sas)
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 -6.1 | GERP -4.8 |
| Overall | ||
| CADD | 0.024 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.27%
South Asian · 2,068/91,054 alleles
Filtering AF
2.19%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.18%
Overall
1.93%
31,088/1,613,608 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 2.27% | 44 |
| European (non-Finnish) | 2.21% | 45 |
| Ashkenazi Jewishnot grpmax-eligible | 2.19% | 46 |
| Remaining individualsnot grpmax-eligible | 1.8% | 56 |
| Admixed American | 0.834% | 120 |
| Middle Eastern | 0.66% | 152 |
| Finnishnot grpmax-eligible | 0.534% | 187 |
| African / African-American | 0.353% | 283 |
| Amishnot grpmax-eligible | 0.11% | 912 |
| East Asian | 0.00669% | 14,958 |
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.Gln61=
- Coding
- c.183G>A
- MANE Select
- NM_001565 · reported on NM_000587
- dbSNP
- rs34196526
- Type
- single nucleotide variant
- Location
- chr5:40934369 (GRCh38)
- Structure
- AlphaFold pLDDT 89.67 · 6 PDB
- Residue 61
- a β-strand; a disulfide bond
Similar variants
- C7 c.281-1G>T Pathogenic/Likely pathogenic ★★ same type
- C7 c.63-1G>A Pathogenic ★★ same type
- C7 c.739-2A>G Likely pathogenic ★★ same type
- C7 p.Arg402Ter Pathogenic/Likely pathogenic ★★ same type
- C7 p.Gln271Ter Pathogenic/Likely pathogenic ★★ same type
- C7 p.Gly379Arg Pathogenic/Likely pathogenic ★★ ⚠ same type
- C7 p.Trp205Ter Pathogenic/Likely pathogenic ★★ same type
- C7 p.Ala359Thr 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/c7-p-gln61 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown