C17ORF107

Chr 17

chromosome 17 open reading frame 107

NCBI Gene: 100130311 ENSG00000205710 UniProt: Q6ZR85

The protein function of C17ORF107 is not well-characterized. Mutations in this gene cause autosomal recessive developmental delay with variable intellectual disability and behavioral abnormalities. The gene shows low constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected individuals.

Research

ResearchGenerating clinical summary…

LOEUF 1.50

Clinical Summary— C17ORF107

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Population Constraint (gnomAD)

Low constraint (pLI 0.07) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

164 unique Pathogenic / Likely Pathogenic· 219 VUS of 850 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?

1.50LOEUF

pLI 0.069

Z-score 0.93

OE 0.50 (0.20–1.50)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.50Z-score

OE missense 0.87 (0.73–1.03)

97 obs / 111.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.50 (0.20–1.50)

0≤0.351.4

Missense OE?0.87 (0.73–1.03)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 2 / 4.0Missense obs/exp: 97 / 111.9Syn Z: 0.61

ClinVar Variant Classifications

850 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic67

Likely Pathogenic97

VUS219

Likely Benign392

Benign20

Conflicting47

Pathogenic

Likely Pathogenic

219

VUS

392

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	53	8	6	0	67
Likely Pathogenic	61	33	3	0	97
VUS	1	194	17	7	219
Likely Benign	0	3	171	218	392
Benign	0	1	17	2	20
Conflicting	—				47
Total	115	239	214	227	842

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

View in ClinVar →

24 pathogenic / likely-pathogenic (of 38) ClinVar copy-number / structural variants overlap C17ORF107 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →