COL1A2 p.Pro62=
c.186T>C · rs2484693699 · VCV1781671
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Cardiovascular phenotype
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 -2.6 | GERP -0.4 |
| Overall | ||
| CADD | 9.782 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- COL1A2
- Protein
- p.Pro62=
- Coding
- c.186T>C
- MANE Select
- NM_000089
- dbSNP
- rs2484693699
- Type
- single nucleotide variant
- Location
- chr7:94400249 (GRCh38)
- Gene constraint
- LOEUF 0.339 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 55.02 · 5 PDB
- Residue 62
- an α-helix; a modified residue (4-hydroxyproline); the 'disordered' region
Similar variants
- COL1A2 c.2565+1G>A Pathogenic ★★ same condition
- COL1A2 p.Ala1119Thr Pathogenic/Likely pathogenic ★★ same condition
- COL1A2 p.Gly259Ser Pathogenic/Likely pathogenic ★★ same condition
- COL1A2 p.Gly907Ser Pathogenic/Likely pathogenic ★★ same condition
- COL1A2 c.1251+2T>G Uncertain significance ★★ same condition
- COL1A2 c.1404+4A>C Uncertain significance ★★ same condition
- COL1A2 c.792+4A>T Uncertain significance ★★ same condition
- COL1A2 p.Ala1035Thr Uncertain significance ★★ ⚠ 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/col1a2-p-pro62 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown