GENE REFERENCE / HGNC:11109

SMARCE1

SWI/SNF related BAF chromatin remodeling complex subunit E1

protein-coding gene17q21.2Gene information

What does this gene do?

The SMARCE1 gene provides instructions for making a protein that forms one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed.

Through their ability to regulate gene activity, SWI/SNF complexes are involved in many processes, including repairing damaged DNA; copying (replicating) DNA; and controlling the growth, division, and maturation (differentiation) of cells.

The role of the SMARCE1 protein within the SWI/SNF complex is not completely understood.

Source: MedlinePlus, National Library of Medicine. Source publication: 2024-10-01. Source review: 2013-05.

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
familial meningiomaMONDO:0011789 · Evaluated 2020-07-30	Autosomal dominant	DefinitiveHereditary Cancer Gene Curation Expert Panel
Coffin-Siris syndromeMONDO:0015452 · Evaluated 2024-09-18	Autosomal dominant	DefinitiveIntellectual Disability and Autism 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: 1,229
Submissions for variants in or overlapping this gene: 1,937
Submissions explicitly reporting this gene: 1,922
Alleles reported pathogenic / likely pathogenic: 81
VariationIDs with uncertain significance: 548
VariationIDs with conflicting classifications: 107

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 SMARCE1?

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 81 alleles in SMARCE1 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 SMARCE1.

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

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