ZNF705G

Chr 8

zinc finger protein 705G

NCBI Gene: 100131980ENSG00000215372UniProt: A8MUZ8

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
88
Pathogenic / LP
273
ClinVar variants
0
Pubs (1 yr)
-5.1
Missense Z
1.93
LOEUF
Clinical Summary— ZNF705G
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
88 Pathogenic / Likely Pathogenic· 85 VUS of 273 total submissions
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.93LOEUF
pLI 0.000
Z-score -1.20
OE 1.50 (0.89–1.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-5.10Z-score
OE missense 2.20 (1.87–2.00)
314 obs / 142.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.50 (0.89–1.93)
0≤0.351.4
Missense OE2.20 (1.87–2.00)
0≤0.61.4
Synonymous OE1.86
0≤1.21.6
LoF obs/exp: 10 / 6.7Missense obs/exp: 314 / 142.5Syn Z: -4.80
DNGOF
DN
0.74top 25%
GOF
0.74top 25%
LOF
0.3550th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction 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

273 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic85
Likely Pathogenic3
VUS85
Likely Benign7
Benign93
85
Pathogenic
3
Likely Pathogenic
85
VUS
7
Likely Benign
93
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
85
0
85
Likely Pathogenic
0
0
3
0
3
VUS
0
82
3
0
85
Likely Benign
0
6
0
1
7
Benign
0
0
93
0
93
Total0881841273

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

View in ClinVar →

ZNF705G · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for ZNF705G

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients