rs555607708 a variant in the CHEK2 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 rs555607708 is the catalogue number of one of them, in the CHEK2 gene. Which letters you carry there — one copy from each parent — is your genotype.

CHEK2 (checkpoint kinase 2): In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor.

Gene description from NCBI Gene

rs555607708, also known as 1100delC, is a SNP in the checkpoint kinase 2 CHEK2 gene on chromosome 22...

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

• CHEK2-related cancer predisposition
• Hereditary cancer-predisposing syndrome
• Familial cancer of breast
• Breast and colorectal cancer, susceptibility to
• Breast neoplasm
• Leiomyosarcoma
• Breast cancer
• Bone osteosarcoma
• Prostate cancer
• Li-Fraumeni syndrome
• Astrocytoma
• Breast and/or ovarian cancer

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

rs555607708

Gene

CHEK2

Position

chr22:28695869

ClinVar classification

Pathogenic

Genome-wide association studies (11)

Sources

• dbSNP: rs555607708 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: CHEK2
• Ensembl: CHEK2
• GWAS Catalog — association studies

Related

Other variants in CHEK2

• rs17879961
• rs137853007
• rs2145785282
• rs137853008
• rs137853009
• rs137853010
• rs121908701
• rs121908702
• rs137853011
• rs121908695

• The CHEK2 gene
• SNP explorer
• Gene directory
• Health conditions