PRDM10

Chr 11AD

PR/SET domain 10

Also known as: BHD2, PFM7, TRIS

NCBI Gene: 56980ENSG00000170325UniProt: Q9NQV6

PRDM10 encodes a transcription factor containing C2H2-type zinc fingers that activates gene expression, including translation initiation factor EIF3B and filamin C (FLNC), and is essential for early embryonic development and embryonic stem cell survival. Mutations cause Birt-Hogg-Dubé syndrome 2 with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.366), consistent with its essential role in early development and central nervous system formation.

Summary from RefSeq, OMIM, UniProt
Research Assistant →

Primary Disease Associations & Inheritance

?Birt-Hogg-Dube syndrome 2MIM #620459
AD
0
Active trials
11
Pubs (1 yr)
78
P/LP submissions
0%
P/LP missense
0.37
LOEUF
—
Mechanism
Clinical Summary— PRDM10
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.
📋
ClinVar Variants
78 unique Pathogenic / Likely Pathogenic· 115 VUS of 230 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint
0.37LOEUF
pLI 0.153
Z-score 5.61
OE 0.24 (0.16–0.37)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
3.28Z-score
OE missense 0.65 (0.60–0.71)
465 obs / 710.9 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.24 (0.16–0.37)
0≤0.351.4
Missense OE0.65 (0.60–0.71)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 15 / 63.1Missense obs/exp: 465 / 710.9Syn Z: 0.03

ClinVar Variant Classifications

230 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic73
Likely Pathogenic5
VUS115
Likely Benign4
Benign6
73
Pathogenic
5
Likely Pathogenic
115
VUS
4
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
73
0
73
Likely Pathogenic
0
0
5
0
5
VUS
0
115
0
0
115
Likely Benign
0
2
1
1
4
Benign
0
2
1
3
6
Total0119804203

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

View in ClinVar →

Protein Context — Lollipop Plot

PRDM10 · 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.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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