C1ORF216

Chr 1

chromosome 1 open reading frame 216

The protein function of C1ORF216 is not well-characterized. Mutations cause autosomal recessive developmental delay with variable intellectual disability and behavioral abnormalities. This gene shows low constraint against loss-of-function variants (pLI 0.001, LOEUF 1.48), suggesting tolerance to protein truncation.

Research

ResearchGenerating clinical summary…

LOEUF 1.48

Clinical Summary— C1ORF216

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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

2 VUS of 3 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?

1.48LOEUF

pLI 0.001

Z-score 0.69

OE 0.72 (0.37–1.48)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.11Z-score

OE missense 0.97 (0.84–1.13)

129 obs / 132.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.72 (0.37–1.48)

0≤0.351.4

Missense OE?0.97 (0.84–1.13)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 5 / 7.0Missense obs/exp: 129 / 132.7Syn Z: -0.08

ClinVar Variant Classifications

3 submitted variants in ClinVar

ClinVar

Classification Summary

VUS2

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	2	2
Likely Benign	0	0
Benign	0	0
Total	2	2

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

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9 pathogenic / likely-pathogenic (of 16) ClinVar copy-number / structural variants overlap C1ORF216 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →