COL4A5 p.Asp464fs
c.1389_1390insTATA · VCV4616276
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 21 of 53 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP -1.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- COL4A5
- Protein
- p.Asp464fs
- Coding
- c.1389_1390insTATA
- MANE Select
- NM_033380
- Type
- Insertion
- Location
- chrX:108591610 (GRCh38)
- Structure
- AlphaFold pLDDT 49.04 · 2 PDB
- Residue 464
- the 'triple-helical region' region; the 'disordered' region
Similar variants
- COL4A5 c.546+1G>A Pathogenic/Likely pathogenic ★★ same condition
- COL4A5 p.Gly135Val Likely pathogenic ★★ same condition
- COL4A5 p.Gly426Arg Pathogenic/Likely pathogenic ★★ same condition
- COL4A5 p.Leu927fs Pathogenic ★★ same condition
- COL4A5 p.Arg1319Trp Uncertain significance ★★ ⚠ same condition
- COL4A5 p.Arg1518His Uncertain significance ★★ ⚠ same condition
- COL4A5 p.Arg1631His Uncertain significance ★★ ⚠ same condition
- COL4A5 p.Arg862Gly 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/col4a5-p-asp464fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown