rs3217992 a variant in the CDKN2B 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 rs3217992 is the catalogue number of one of them, in the CDKN2B gene. Which letters you carry there — one copy from each parent — is your genotype.

CDKN2B (cyclin dependent kinase inhibitor 2B): This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression.

Gene description from NCBI Gene

rs3217992 is a SNP in the cyclin-dependent kinase inhibitor 2B CDKN2B gene. A study of 432 Han Chine...

From SNPedia

Why might it matter?

ClinVar records this variant as likely pathogenic, meaning probably 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

• Malignant tumor of breast

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

rs3217992

Gene

CDKN2B

Position (GRCh38)

chr9:22003223

Variant type

snv

Consequence

3 prime UTR variant

ClinVar classification

Likely pathogenic

Genome-wide association studies (6)

How common the less frequent letter is

gnomAD ALL

39.7%

1kG AFR

12.9%

1kG ALL

65.2%

1kG AMR

37%

1kG EAS

47.5%

1kG EUR

40.2%

1kG SAS

39.3%

Sources

• dbSNP: rs3217992 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: CDKN2B
• Ensembl: CDKN2B
• GWAS Catalog — association studies

Related

Other variants in CDKN2B

• rs148421170
• rs1554661619
• rs2489397090

• The CDKN2B gene
• SNP explorer
• Gene directory
• Health conditions