BIVM-ERCC5
Chr 13BIVM-ERCC5 readthrough
Also known as: ERCC5-202
This fusion protein combines sequences from BIVM (basic immunoglobulin-like variable motif containing protein) and ERCC5 (a DNA repair endonuclease involved in nucleotide excision repair). Mutations cause xeroderma pigmentosum complementation group G, characterized by extreme sun sensitivity, neurodegeneration, and developmental abnormalities, with autosomal recessive inheritance. The gene shows extreme intolerance to loss-of-function variants, reflecting its critical role in DNA repair processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
476 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 27 | 4 | 53 | 0 | 84 |
Likely Pathogenic | 26 | 5 | 1 | 0 | 32 |
VUS | 2 | 120 | 19 | 5 | 146 |
Likely Benign | 0 | 14 | 36 | 80 | 130 |
Benign | 0 | 7 | 38 | 3 | 48 |
Conflicting | — | 26 | |||
| Total | 55 | 150 | 147 | 88 | 466 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BIVM-ERCC5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools