GENE REFERENCE / HGNC:21061

SERAC1

serine active site containing 1

protein-coding gene6q25.3Gene information

What does this gene do?

The SERAC1 gene provides instructions for making a protein whose function is not completely understood. Studies suggest that the SERAC1 protein is involved in altering (remodeling) certain fats called phospholipids, particularly a phospholipid called phosphatidylglycerol.

Another phospholipid called cardiolipin is made from phosphatidylglycerol. Cardiolipin is a component of the membrane that surrounds cellular structures called mitochondria, which convert the energy from food into a form that cells can use, and is important for the proper functioning of these structures.

Researchers believe that the SERAC1 protein is also involved in the movement of a waxy, fat-like substance called cholesterol within cells. Cholesterol is a structural component of cell membranes and plays a role in the production of certain hormones and digestive acids. It has important functions both before and after birth.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2014-07.

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
Leigh syndromeMONDO:0009723 · Evaluated 2021-01-14	Autosomal recessive	DefinitiveMitochondrial Diseases 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: 575
Submissions for variants in or overlapping this gene: 941
Submissions explicitly reporting this gene: 885
Alleles reported pathogenic / likely pathogenic: 67
VariationIDs with uncertain significance: 179
VariationIDs with conflicting classifications: 22

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 SERAC1?

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 67 alleles in SERAC1 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 SERAC1.

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

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