C1ORF210

Chr 1

chromosome 1 open reading frame 210

Also known as: TEMP

NCBI Gene: 149466 ENSG00000253313 OMIM: 620582

This protein is predicted to be involved in membrane trafficking between endosomes and the plasma membrane. Mutations in C1ORF210 cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. The gene is highly intolerant to loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be located in early endosome; plasma membrane; and recycling endosome. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.91

Clinical Summary— C1ORF210

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

4 total variants — no pathogenic classifications of 4 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.91LOEUF

pLI 0.000

Z-score -0.55

OE 1.30 (0.64–1.91)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.06Z-score

OE missense 0.98 (0.81–1.20)

70 obs / 71.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.30 (0.64–1.91)

0≤0.351.4

Missense OE?0.98 (0.81–1.20)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 5 / 3.8Missense obs/exp: 70 / 71.3Syn Z: -0.04

ClinVar Variant Classifications

4 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Benign1

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	0	0
Likely Benign	1	1
Benign	0	0
Total	1	1

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

View in ClinVar →

11 pathogenic / likely-pathogenic (of 15) ClinVar copy-number / structural variants overlap C1ORF210 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →