SAMD12

Chr 8

sterile alpha motif domain containing 12

Also known as: BAFME, BAFME1, FAME, FAME1, FCMTE1, MEBA

NCBI Gene: 401474ENSG00000177570UniProt: Q8N8I0

Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to be active in cytoplasmic side of plasma membrane. Implicated in familial adult myoclonic epilepsy 1. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEpilepsy, familial adult myoclonic, 1
0
Active trials
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.14
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.14LOEUF
pLI 0.001
Z-score 1.26
OE 0.58 (0.32–1.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.08Z-score
OE missense 1.02 (0.88–1.20)
109 obs / 106.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.58 (0.32–1.14)
0≤0.351.4
Missense OE?1.02 (0.88–1.20)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 6 / 10.4Missense obs/exp: 109 / 106.6Syn Z: -0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SAMD12 · 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 →

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