GENE REFERENCE / HGNC:9456

PROS1

protein S

protein-coding gene3q11.1Gene information

What does this gene do?

The PROS1 gene provides instructions for making a protein called protein S that is important for the regulation of blood clotting. Although protein S can work on its own to inhibit certain clotting factors, it often works as a cofactor. Cofactors enhance the function of proteins that speed up chemical reactions (enzymes).

Protein S is made by cells in the liver. The protein circulates in the bloodstream in two forms; it is either attached (bound) to a specific protein, or it occurs by itself in a free form. The free form of protein S can act as a cofactor for an enzyme called activated protein C (APC). APC turns off (inactivates) the blood clotting proteins known as factor Va and factor VIIIa. Protein S also helps a protein called tissue factor pathway inhibitor (TFPI) block the activity of another clotting protein, factor Xa. This inactivation slows down the clotting process so that blood flow is not impaired.

Source: MedlinePlus, National Library of Medicine. Source publication: 2024-04-30. Source review: 2024-04.

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
protein S deficiencyMONDO:0002304 · Evaluated 2020-01-22	Semidominant	DefinitiveHemostasis/Thrombosis 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: 752
Submissions for variants in or overlapping this gene: 1,088
Submissions explicitly reporting this gene: 1,042
Alleles reported pathogenic / likely pathogenic: 168
VariationIDs with uncertain significance: 324
VariationIDs with conflicting classifications: 46

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 PROS1?

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 168 alleles in PROS1 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 PROS1.

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

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