COL8A2 p.Val134=
c.402C>T · rs536968194 · VCV2720189
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0484%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.79 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.27 | GERP -3.9 |
| Overall | ||
| CADD | 5.988 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0484%
South Asian · 41/84,680 alleles
Filtering AF
0.0366%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0325%
Overall
0.0061%
95/1,556,380 alleles · ultra-rare
exomes 78/1,404,534 · genomes 17/151,846 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0484% | 2,065 |
| Middle Eastern | 0.0185% | 5,392 |
| African / African-American | 0.0122% | 8,197 |
| Remaining individualsnot grpmax-eligible | 0.0116% | 8,605 |
| Admixed American | 0.00775% | 12,904 |
| European (non-Finnish) | 0.00278% | 35,966 |
| Finnishnot grpmax-eligible | 0.00172% | 58,308 |
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
- COL8A2
- Protein
- p.Val134=
- Coding
- c.402C>T
- MANE Select
- NM_005202
- dbSNP
- rs536968194
- Type
- single nucleotide variant
- Location
- chr1:36099279 (GRCh38)
- Gene constraint
- LOEUF 1.139 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 58.03
- Residue 134
- the 'disordered' region; the 'triple-helical region' region
Similar variants
- COL8A2 p.Val134Ile Uncertain significance ★ ⚠ same residue
- COL8A2 p.Arg149Gln Uncertain significance ★★ ⚠ same type
- COL8A2 p.Arg263Ser Uncertain significance ★★ ⚠ same type
- COL8A2 p.Arg372Cys Uncertain significance ★★ ⚠ same type
- COL8A2 p.Glu568Lys Uncertain significance ★★ ⚠ same type
- COL8A2 p.Gly549Ser Uncertain significance ★★ ⚠ same type
- COL8A2 p.Gly550Ser Uncertain significance ★★ ⚠ same type
- COL8A2 p.Gly559Glu 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/col8a2-p-val134 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown