COL4A5 p.Ser1047=
c.3141T>C · rs1350852221 · VCV1699548
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00175%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.067 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.38 | GERP -1.3, phastCons 1 |
| Overall | ||
| CADD | 8.456 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00175%
African / African-American · 1/57,071 alleles
Overall
0.000896%
1/111,624 alleles · very 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
- COL4A5
- Protein
- p.Ser1047=
- Coding
- c.3141T>C
- MANE Select
- NM_033380
- dbSNP
- rs1350852221
- Type
- single nucleotide variant
- Location
- chrX:108626244 (GRCh38)
- Structure
- AlphaFold pLDDT 49.04 · 2 PDB
- Residue 1047
- the 'triple-helical region' region; the 'disordered' region
Similar variants
- COL4A5 c.1032+1G>C Pathogenic/Likely pathogenic ★★ same type
- COL4A5 c.1033-1G>A Pathogenic ★★ same type
- COL4A5 c.1033-2A>G Pathogenic/Likely pathogenic ★★ same type
- COL4A5 c.1339+1G>A Pathogenic/Likely pathogenic ★★ same type
- COL4A5 c.141+1G>A Pathogenic ★★ same type
- COL4A5 c.1423+1G>A Pathogenic ★★ same type
- COL4A5 c.1424-20T>A Pathogenic/Likely pathogenic ★★ same type
- COL4A5 c.1516+1G>C Pathogenic ★★ 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/col4a5-p-ser1047 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown