C1QC p.Pro244=
c.732C>T · VCV3708755
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00769%, 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 -12 | GERP -3.4 |
| Overall | ||
| CADD | 2.377 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00769%
South Asian · 7/91,084 alleles
Filtering AF
0.00359%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00255%
Overall
0.001%
16/1,599,600 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00769% | 13,012 |
| East Asian | 0.00669% | 14,958 |
| African / African-American | 0.00267% | 37,458 |
| European (non-Finnish) | 0.000339% | 294,988 |
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.Pro244=
- Coding
- c.732C>T
- MANE Select
- NM_172369
- Type
- single nucleotide variant
- Location
- chr1:22647777 (GRCh38)
- Gene constraint
- LOEUF 1.643 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 81.69 · 11 PDB
- Residue 244
- the c1q domain; a β-strand
Similar variants
- 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
- C1QC p.Gly67Arg Uncertain significance ★★ same type
- C1QC p.His171Gln 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-pro244 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown