SAMD10

Chr 20

sterile alpha motif domain containing 10

Also known as: C20orf136, dJ591C20, dJ591C20.7

NCBI Gene: 140700 ENSG00000130590 UniProt: 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.

ResearchSummary from RefSeq

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

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.29

LOEUF

Mechanism· predicted

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 OE?0.65 (0.36–1.29)

0≤0.351.4

Missense OE?0.80 (0.67–0.94)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 6 / 9.2Missense obs/exp: 95 / 119.3Syn Z: -0.28

Background carrier burden — how many people carry a rare variant somewhere in SAMD10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 240

279 rare PASS variants

Rare truncating (LoF)

1 in 6,700

39 rare PASS variants

Rare synonymous (reference)

1 in 240

141 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SAMD10. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 230	1 in 8,300
South Asian	~43k	1 in 160	1 in 5,100
Remaining (unassigned)	~30k	1 in 150	≈ 1 in 15,000
European (Finnish)	~27k	1 in 550	≈ 1 in 8,900
Admixed American	~22k	1 in 240	1 in 2,200
African / African American	~21k	1 in 200	≈ 1 in 7,000
East Asian	~20k	1 in 210	≈ 1 in 9,800
Ashkenazi Jewish	~13k	1 in 1,800	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 260	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 4 of 5 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 5.? see exons ↓