GENE REFERENCE / HGNC:1349

SAMD9L

sterile alpha motif domain containing 9 like

protein-coding gene7q21.2Gene information

What does this gene do?

The SAMD9L gene provides instructions for making a protein that is active in cells throughout the body. The protein is involved in regulating the growth and division (proliferation) and maturation (differentiation) of cells, particularly cells in the bone marrow that give rise to blood cells. Studies suggest that the SAMD9L protein acts as a tumor suppressor, keeping cells from growing and dividing too rapidly or in an uncontrolled way. The SAMD9L protein also appears to play an important role in the brain, particularly the part of the brain that coordinates movement (the cerebellum), although less is known about the protein's function there.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-05-01. Source review: 2017-09.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
SAMD9L-related spectrum and myeloid neoplasm riskMONDO:1060111 · Evaluated 2025-01-14	Autosomal dominant	DefinitiveChildhood, Adolescent and Young Adult Cancer Predisposition Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 2,636
Submissions for variants in or overlapping this gene: 4,116
Submissions explicitly reporting this gene: 4,067
Alleles reported pathogenic / likely pathogenic: 23
VariationIDs with uncertain significance: 1,761
VariationIDs with conflicting classifications: 101

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about SAMD9L?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 23 alleles in SAMD9L reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in SAMD9L.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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