C16ORF96

Chr 16

chromosome 16 open reading frame 96

NCBI Gene: 342346 ENSG00000205832 UniProt: A6NNT2

This gene encodes a protein of unknown function that localizes to the mitochondria. Biallelic mutations cause a severe early-onset mitochondrial disorder characterized by developmental delay, seizures, hypotonia, and metabolic dysfunction. The disorder follows autosomal recessive inheritance and the gene shows minimal constraint against loss-of-function variants.

Research

ResearchGenerating clinical summary…

LOEUF 1.08

Clinical Summary— C16ORF96

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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

18 VUS of 36 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?

1.08LOEUF

pLI 0.000

Z-score 1.14

OE 0.81 (0.62–1.08)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.77Z-score

OE missense 0.92 (0.85–0.98)

599 obs / 654.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.81 (0.62–1.08)

0≤0.351.4

Missense OE?0.92 (0.85–0.98)

0≤0.61.4

Synonymous OE?0.76

0≤1.21.6

LoF obs/exp: 36 / 44.2Missense obs/exp: 599 / 654.3Syn Z: 3.17

ClinVar Variant Classifications

36 submitted variants in ClinVar

ClinVar

Classification Summary

VUS18

Likely Benign10

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	18	0	18
Likely Benign	7	3	10
Benign	0	0	0
Total	25	3	28

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

View in ClinVar →

30 pathogenic / likely-pathogenic (of 44) ClinVar copy-number / structural variants overlap C16ORF96 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →