SAMD9L

Chr 7

sterile alpha motif domain containing 9 like

Also known as: ATXPC, C7DELq, C7orf6, DEL7q, DRIF2, M7MLS1, MLSM7, SCA49

NCBI Gene: 219285ENSG00000177409UniProt: Q8IVG5

This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAtaxia-pancytopenia syndrome
UniProtMonosomy 7 myelodysplasia and leukemia syndrome 1
UniProtSpinocerebellar ataxia 49

Clinical highlights

Gene-disease validity (ClinGen)
SAMD9L-related spectrum and myeloid neoplasm risk · ADDefinitivesufficient evidence for diagnostic panels
1
Active trials
27
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.78
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — SAMD9L
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.78LOEUF
pLI 0.000
Z-score 2.86
OE 0.58 (0.44–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.63Z-score
OE missense 0.84 (0.78–0.89)
661 obs / 790.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.44–0.78)
0≤0.351.4
Missense OE?0.84 (0.78–0.89)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 32 / 54.9Missense obs/exp: 661 / 790.3Syn Z: -0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SAMD9L · 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