C10ORF105

Chr 10

chromosome 10 open reading frame 105

NCBI Gene: 414152 ENSG00000214688 UniProt: Q8TEF2

The C10ORF105 protein is predicted to be located in cellular membranes, though its specific function remains unclear. Mutations in this gene have not been definitively associated with any recognized pediatric neurological disorders. The gene shows low constraint against loss-of-function variants (pLI 0.08, LOEUF 1.9), suggesting it may be tolerant to disruption.

ResearchSummary from RefSeq

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 1.91

Clinical Summary— C10ORF105

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.08) — loss-of-function variants are relatively tolerated in the population.

📋

ClinVar Variants

70 unique Pathogenic / Likely Pathogenic· 200 VUS of 585 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.91LOEUF

pLI 0.084

Z-score -0.16

OE 1.19 (0.29–1.91)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.20Z-score

OE missense 1.07 (0.88–1.30)

71 obs / 66.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.19 (0.29–1.91)

0≤0.351.4

Missense OE?1.07 (0.88–1.30)

0≤0.61.4

Synonymous OE?1.40

0≤1.21.6

LoF obs/exp: 1 / 0.8Missense obs/exp: 71 / 66.4Syn Z: -1.69

ClinVar Variant Classifications

585 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic32

Likely Pathogenic38

VUS200

Likely Benign242

Benign25

Conflicting44

Pathogenic

Likely Pathogenic

200

VUS

242

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	27	0	5	0	32
Likely Pathogenic	34	4	0	0	38
VUS	1	182	11	6	200
Likely Benign	0	12	88	142	242
Benign	0	2	23	0	25
Conflicting	—				44
Total	62	200	127	148	581

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

View in ClinVar →

13 pathogenic / likely-pathogenic (of 19) ClinVar copy-number / structural variants overlap C10ORF105 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →