BIVM-ERCC5

Chr 13

BIVM-ERCC5 readthrough

Also known as: ERCC5-202

NCBI Gene: 100533467ENSG00000270181

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.

Summary from RefSeq
Research Assistant →
0
Active trials
0
Pubs (1 yr)
110
P/LP submissions
6%
P/LP missense
0.69
LOEUF
—
Mechanism
Clinical Summary— BIVM-ERCC5
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
93 unique Pathogenic / Likely Pathogenic· 103 VUS of 374 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.69LOEUF
pLI 0.000
Z-score 3.65
OE 0.52 (0.40–0.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.60Z-score
OE missense 0.94 (0.88–1.00)
691 obs / 737.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.52 (0.40–0.69)
0≤0.351.4
Missense OE0.94 (0.88–1.00)
0≤0.61.4
Synonymous OE0.92
0≤1.21.6
LoF obs/exp: 36 / 68.6Missense obs/exp: 691 / 737.0Syn Z: 0.99

ClinVar Variant Classifications

374 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic65
Likely Pathogenic28
VUS103
Likely Benign108
Benign44
Conflicting16
65
Pathogenic
28
Likely Pathogenic
103
VUS
108
Likely Benign
44
Benign
16
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
9
4
52
0
65
Likely Pathogenic
18
2
8
0
28
VUS
2
93
7
1
103
Likely Benign
0
13
32
63
108
Benign
0
7
36
1
44
Conflicting
—16
Total2911913565364

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients