SAMD10

Chr 20

sterile alpha motif domain containing 10

Also known as: C20orf136, dJ591C20, dJ591C20.7

NCBI Gene: 140700ENSG00000130590UniProt: Q9BYL1

The SAMD10 protein is predicted to function in cell surface receptor protein tyrosine kinase signaling pathways at the cytoplasmic side of the plasma membrane. This gene is not well-established as a cause of human disease, with very limited clinical data available. The gene shows tolerance to loss-of-function variants in the general population.

Summary from RefSeq
Research Assistant →
0
Active trials
2
Pubs (1 yr)
37
P/LP submissions
0%
P/LP missense
1.29
LOEUF
DN
Mechanism· predicted
Clinical Summary— SAMD10
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
37 unique Pathogenic / Likely Pathogenic· 44 VUS of 86 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.29LOEUF
pLI 0.001
Z-score 0.97
OE 0.65 (0.36–1.29)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.79Z-score
OE missense 0.80 (0.67–0.94)
95 obs / 119.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.65 (0.36–1.29)
0≤0.351.4
Missense OE0.80 (0.67–0.94)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 6 / 9.2Missense obs/exp: 95 / 119.3Syn Z: -0.28
DN
0.6453th %ile
GOF
0.6248th %ile
LOF
0.4429th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

86 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic29
Likely Pathogenic8
VUS44
Likely Benign1
29
Pathogenic
8
Likely Pathogenic
44
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
29
0
29
Likely Pathogenic
0
0
8
0
8
VUS
0
30
14
0
44
Likely Benign
0
0
1
0
1
Benign
0
0
0
0
0
Total03052082

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SAMD10 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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