SAMD8

Chr 10

sterile alpha motif domain containing 8

Also known as: HEL-177, PE-PLC, SMSr

NCBI Gene: 142891ENSG00000156671UniProt: Q96LT4OMIM: 611575

Predicted to enable ceramide cholinephosphotransferase activity; ceramide phosphoethanolamine synthase activity; and sphingomyelin synthase activity. Involved in ceramide biosynthetic process and regulation of ceramide biosynthetic process. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.73
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.73LOEUF
pLI 0.002
Z-score 2.47
OE 0.40 (0.23–0.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.89Z-score
OE missense 0.45 (0.39–0.54)
101 obs / 222.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.40 (0.23–0.73)
0≤0.351.4
Missense OE?0.45 (0.39–0.54)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 8 / 19.9Missense obs/exp: 101 / 222.0Syn Z: 0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SAMD8 · 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