C1ORF198

Chr 1

chromosome 1 open reading frame 198

NCBI Gene: 84886 ENSG00000119280 UniProt: Q9H425

The protein encoded by this gene localizes to the cytosol, but its specific molecular function remains unclear. This gene is highly constrained against loss-of-function variants (pLI = 0.0006), suggesting it plays an important biological role, though associated diseases have not yet been definitively established. Further research is needed to determine the clinical significance of variants in this gene.

ResearchSummary from RefSeq

Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical Summary— C1ORF198

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ClinVar Variants

7 VUS of 21 total submissions

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Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

21 submitted variants in ClinVar

ClinVar

Classification Summary

VUS7

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	7	7
Likely Benign	0	0
Benign	0	0
Total	7	7

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

38 pathogenic / likely-pathogenic (of 49) ClinVar copy-number / structural variants overlap C1ORF198 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →