COL11A1 p.Arg352=
c.1056G>A · rs762727530 · VCV681178
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0268%, eas)
Conditions
1
connective tissue 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 1 | GERP 1.6, phastCons 1 |
| Overall | ||
| CADD | 10.51 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0268%
East Asian · 12/44,850 alleles
Filtering AF
0.0154%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0121%
Overall
0.000744%
12/1,613,416 alleles · ultra-rare
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
- COL11A1
- Protein
- p.Arg352=
- Coding
- c.1056G>A
- MANE Select
- NM_001854
- dbSNP
- rs762727530
- Type
- single nucleotide variant
- Location
- chr1:103022931 (GRCh38)
- Gene constraint
- LOEUF 0.349 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 53.06
- Residue 352
- the 'nonhelical region' region
Similar variants
- COL11A1 p.Arg352Trp Conflicting classifications of pathogenicity ★ ⚠ same residue
- COL11A1 p.Arg352Lys Benign ★ same residue
- COL11A1 p.Gly997Asp Uncertain significance ★★ ⚠ same condition
- COL11A1 p.Met1434Val Uncertain significance ★★ ⚠ same condition
- COL11A1 p.Pro1626Ser Uncertain significance ★★ ⚠ same condition
- COL11A1 c.1309-7G>A Likely benign ★★ same condition
- COL11A1 c.1899+16T>G Likely benign ★★ same condition
- COL11A1 c.1945-7C>A Benign/Likely benign ★★ 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/col11a1-p-arg352 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown