ZNF174

Chr 16

zinc finger protein 174

Also known as: ZSCAN8

NCBI Gene: 7727 ENSG00000103343 UniProt: Q15697 OMIM: 603900

This protein functions as a transcriptional repressor containing three zinc fingers and a SCAN domain that enables homodimer formation. The gene shows low constraint against loss-of-function variants (pLI 0.01, LOEUF 0.71), and no definitive human disease associations have been established for ZNF174 mutations. Further research is needed to determine if variants in this gene cause pediatric neurological conditions.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein with three Cys2-His2-type zinc fingers in the carboxy-terminus, a putative nuclear localization signal, and an amino-terminus SCAN box which forms homodimers. This protein is believed to function as a transcriptional repressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]

OMIM ResearchGenerating clinical summary…

DNmechanism

Clinical Summary— ZNF174

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ClinVar Variants

61 VUS of 69 total submissions

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Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

This gene — mechanism propensity

0.74top 25%

GOF

0.5465th %ile

LOF

0.3453th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

69 submitted variants in ClinVar

ClinVar

Classification Summary

VUS61

Likely Benign3

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	0	61	0	61
Likely Benign	1	0	2	3
Benign	0	0	0	0
Total	1	61	2	64

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

View in ClinVar →

34 pathogenic / likely-pathogenic (of 50) ClinVar copy-number / structural variants overlap ZNF174 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →