C1QC p.Pro71=
c.213C>G · rs148662464 · VCV1169195
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.25%, eas)
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 0.12 | GERP -2.6, phastCons 0.35 |
| Overall | ||
| CADD | 6.062 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.25%
East Asian · 1,011/44,856 alleles
Filtering AF
2.14%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.09%
Overall
0.0639%
1,028/1,609,942 alleles · low-frequency
exomes 973/1,457,706 · genomes 55/152,236 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 2.25% | 44 |
| Remaining individualsnot grpmax-eligible | 0.0256% | 3,905 |
| European (non-Finnish) | 8.47e-05% | 1,179,958 |
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
- C1QC
- Protein
- p.Pro71=
- Coding
- c.213C>G
- MANE Select
- NM_172369
- dbSNP
- rs148662464
- Type
- single nucleotide variant
- Location
- chr1:22647258 (GRCh38)
- Gene constraint
- LOEUF 1.643 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 81.69 · 11 PDB
- Residue 71
- the collagen-like domain; the 'disordered' region
Similar variants
- C1QC p.Pro71Ser Uncertain significance ★★ ⚠ same residue
- C1QC p.Pro71fs Conflicting classifications of pathogenicity ★ same residue
- C1QC p.Gly34Arg Pathogenic ★★ same type
- C1QC p.Ala172Val Uncertain significance ★★ ⚠ same type
- C1QC p.Arg126Gln Uncertain significance ★★ ⚠ same type
- C1QC p.Arg184His Uncertain significance ★★ ⚠ same type
- C1QC p.Asp2Asn Uncertain significance ★★ ⚠ same type
- C1QC p.Glu77Lys 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/c1qc-p-pro71 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown