STAC3

Chr 12

SH3 and cysteine rich domain 3

Also known as: CMYO13, CMYP13, MYPBB, NAM

NCBI Gene: 246329ENSG00000185482UniProt: Q96MF2

The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital myopathy 13

Clinical highlights

Gene-disease validity (ClinGen)
Bailey-Bloch congenital myopathy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
22
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.75
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — STAC3
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
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?
0.75LOEUF
pLI 0.000
Z-score 2.44
OE 0.44 (0.27–0.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.91Z-score
OE missense 0.83 (0.73–0.94)
180 obs / 217.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.27–0.75)
0≤0.351.4
Missense OE?0.83 (0.73–0.94)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 10 / 22.5Missense obs/exp: 180 / 217.6Syn Z: 1.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

STAC3 · 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