C1ORF50

Chr 1

chromosome 1 open reading frame 50

NCBI Gene: 79078 ENSG00000164008 UniProt: Q9BV19

The C1ORF50 protein enables identical protein binding activity, but its specific cellular function remains poorly characterized. This gene shows low constraint against loss-of-function variants (pLI = 0.03, LOEUF = 0.94), suggesting tolerance to functional disruption. Currently, no established Mendelian diseases have been definitively linked to C1ORF50 mutations in clinical practice.

ResearchSummary from RefSeq

Enables identical protein binding activity. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 0.94

Clinical Summary— C1ORF50

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Population Constraint (gnomAD)

Low constraint (pLI 0.03) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

1 VUS of 7 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?

0.94LOEUF

pLI 0.027

Z-score 1.70

OE 0.41 (0.20–0.94)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.30Z-score

OE missense 1.08 (0.93–1.27)

113 obs / 104.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.41 (0.20–0.94)

0≤0.351.4

Missense OE?1.08 (0.93–1.27)

0≤0.61.4

Synonymous OE?0.92

0≤1.21.6

LoF obs/exp: 4 / 9.7Missense obs/exp: 113 / 104.4Syn Z: 0.42

ClinVar Variant Classifications

7 submitted variants in ClinVar

ClinVar

Classification Summary

VUS1

Likely Benign1

Benign1

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	1	0	0	1
Likely Benign	0	0	1	1
Benign	0	1	0	1
Total	1	1	1	3

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

View in ClinVar →

12 pathogenic / likely-pathogenic (of 15) ClinVar copy-number / structural variants overlap C1ORF50 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →