rs77375493 a variant in the JAK2 gene

What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs77375493 is the catalogue number of one of them, in the JAK2 gene. Which letters you carry there — one copy from each parent — is your genotype.

JAK2 (Janus kinase 2): This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain that binds STAT transcription factors, a pseudokinase domain and a C-terminal tyrosine kinase domain.

Gene description from NCBI Gene

rs77375493, also known as V617F or Val617Phe, is a variant considered to generally be acquired (i.e....

From SNPedia

Why might it matter?

ClinVar records this variant as pathogenic, meaning able to cause or contribute to disease. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

• Acquired polycythemia vera
• Primary myelofibrosis
• Acute myeloid leukemia
• Budd-Chiari syndrome, susceptibility to, somatic
• Thrombocythemia 3
• Primary familial polycythemia due to EPO receptor mutation
• Myeloproliferative disorder
• Polycythemia
• 6 conditions
• Splenomegaly
• JAK2-related disorder

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

Do I have this variant?

Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

What should I do next?

1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.

This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID

rs77375493

Gene

JAK2

Position

chr9:5073770

ClinVar classification

Pathogenic

Genome-wide association studies (20)

Sources

• dbSNP: rs77375493 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: JAK2
• Ensembl: JAK2
• GWAS Catalog — association studies

Related

Other variants in JAK2

• rs182123615
• rs150159583
• rs2488857097
• rs138655335
• rs1486560342
• rs368927897
• rs139504737
• rs533264615
• rs1426814242
• rs892216772

• The JAK2 gene
• SNP explorer
• Gene directory
• Health conditions