MN1

Chr 22

MN1 proto-oncogene, transcriptional regulator

Also known as: CEBALID, MGCR, MGCR1, MGCR1-PEN, dJ353E16.2

NCBI Gene: 4330ENSG00000169184UniProt: Q10571

Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCEBALID syndrome

Clinical highlights

Gene-disease validity (ClinGen)
CEBALID syndrome · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
66
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.09
LOEUF· LoF intol.
Multiple*
Mechanism· G2P
📖
GeneReview available — MN1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.09LOEUF
pLI 1.000
Z-score 5.41
OE 0.00 (0.00–0.09)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
2.16Z-score
OE missense 0.78 (0.73–0.83)
592 obs / 759.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.09)
0≤0.351.4
Missense OE?0.78 (0.73–0.83)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 0 / 34.0Missense obs/exp: 592 / 759.4Syn Z: 1.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MN1 · protein map & ClinVar variants

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

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