MED30

Chr 8

mediator complex subunit 30

Also known as: MED30S, THRAP6, TRAP25

NCBI Gene: 90390 ENSG00000164758 UniProt: Q96HR3 OMIM: 610237

MED30 encodes a component of the Mediator complex, which serves as a bridge between gene-specific regulatory proteins and RNA polymerase II to facilitate transcription of nearly all protein-coding genes. Mutations cause autosomal recessive intellectual disability with seizures and spastic paraplegia, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.67), consistent with its essential role in transcriptional regulation.

OMIM ResearchSummary from RefSeq, UniProt

The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).[supplied by OMIM, Nov 2010]

OMIM ResearchGenerating clinical summary…

LOEUF 0.67

Clinical Summary— MED30

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.

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ClinVar Variants

21 VUS of 26 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?

0.67LOEUF

pLI 0.403

Z-score 2.23

OE 0.21 (0.09–0.67)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.69Z-score

OE missense 0.80 (0.67–0.97)

78 obs / 97.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.21 (0.09–0.67)

0≤0.351.4

Missense OE?0.80 (0.67–0.97)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 2 / 9.4Missense obs/exp: 78 / 97.2Syn Z: -0.01

ClinVar Variant Classifications

26 submitted variants in ClinVar

ClinVar

Classification Summary

VUS21

Benign1

VUS

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	21	21
Likely Benign	0	0
Benign	1	1
Total	22	22

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

View in ClinVar →

58 pathogenic / likely-pathogenic (of 65) ClinVar copy-number / structural variants overlap MED30 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →