RNASEH2C
Chr 11ARribonuclease H2 subunit C
This gene encodes a non-catalytic subunit of RNase H2, an endonuclease that degrades RNA from RNA:DNA hybrids and excises single ribonucleotides from DNA:RNA duplexes during DNA replication. Mutations cause Aicardi-Goutieres syndrome-3, an autosomal recessive disorder characterized by severe neurologic dysfunction. Loss of function mutations impair the enzyme's ability to remove RNA primers and ribonucleotides during DNA replication, leading to accumulation of nucleic acid species that trigger innate immune responses.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
100 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 | 1 | 0 | 0 | 1 |
Likely Pathogenic | 1 | 0 | 1 | 0 | 2 |
VUS | 2 | 30 | 1 | 0 | 33 |
Likely Benign | 0 | 1 | 22 | 33 | 56 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 2 | |||
| Total | 3 | 32 | 24 | 33 | 94 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RNASEH2C · 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 →External Resources
Links to major genomics databases and tools