ZNF830

Chr 17

zinc finger protein 830

Also known as: CCDC16, OMCG1

Predicted to enable nucleic acid binding activity and zinc ion binding activity. Predicted to be involved in several processes, including mitotic DNA integrity checkpoint signaling; nuclear DNA replication; and preantral ovarian follicle growth. Predicted to act upstream of or within several processes, including blastocyst growth; chromosome organization; and intestinal epithelial structure maintenance. Predicted to be located in nucleoplasm. Predicted to be part of spliceosomal complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Active trials

ClinVar variants

Pathogenic / LP

0.4

Missense Z

0.77

LOEUF

Pubs (2 yr)

Clinical Summary— ZNF830

⚡

Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.34) despite low pLI — interpret in context.

📋

ClinVar Variants

5 Pathogenic / Likely Pathogenic· 61 VUS of 68 total submissions

Some data sources returned errors (2)

ensembl: TimeoutError: The operation was aborted due to timeout

pubtator: Error: PubTator3 HTTP 400

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.

0.77LOEUF

pLI 0.060

Z-score 2.11

OE 0.34 (0.17–0.77)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.

0.40Z-score

OE missense 0.92 (0.82–1.04)

190 obs / 206.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.

LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.34 (0.17–0.77)

0≤0.351.4

Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.92 (0.82–1.04)

0≤0.61.4

Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.17

0≤1.21.6

LoF obs/exp: 4 / 11.9Missense obs/exp: 190 / 206.3Syn Z: -1.25