RNASEH2C

Chr 11

ribonuclease H2 subunit C

Also known as: AGS3, AYP1

NCBI Gene: 84153ENSG00000172922UniProt: Q8TDP1

This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAicardi-Goutieres syndrome 3

Clinical highlights

Gene-disease validity (ClinGen)
RNASEH2C-related type 1 interferonopathy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.47
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — RNASEH2C
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.47LOEUF
pLI 0.005
Z-score 0.79
OE 0.65 (0.32–1.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.92Z-score
OE missense 1.26 (1.09–1.47)
122 obs / 96.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.65 (0.32–1.47)
0≤0.351.4
Missense OE?1.26 (1.09–1.47)
0≤0.61.4
Synonymous OE?1.28
0≤1.21.6
LoF obs/exp: 4 / 6.1Missense obs/exp: 122 / 96.6Syn Z: -1.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

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