GINS1
Chr 20ARGINS complex subunit 1
Also known as: IMD55, PSF1
GINS1 encodes a subunit of the GINS complex, which is essential for DNA replication initiation and progression as part of the CMG helicase that unwinds template DNA during replication. Biallelic mutations cause autosomal recessive immunodeficiency 55, affecting the immune system. The gene is not highly constrained against loss-of-function variants (pLI near 0, LOEUF 1.28).
Primary Disease Associations & Inheritance
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
244 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 | 0 | 0 | 17 | 0 | 17 |
Likely Pathogenic | 0 | 1 | 3 | 0 | 4 |
VUS | 10 | 99 | 33 | 3 | 145 |
Likely Benign | 0 | 0 | 30 | 29 | 59 |
Benign | 0 | 2 | 2 | 0 | 4 |
Conflicting | — | 2 | |||
| Total | 10 | 102 | 85 | 32 | 231 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GINS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 →External Resources
Links to major genomics databases and tools