rs138213197 a variant in the HOXB13 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 rs138213197 is the catalogue number of one of them, in the HOXB13 gene. Which letters you carry there — one copy from each parent — is your genotype.

HOXB13 (homeobox B13): This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin development and cutaneous regeneration.

Gene description from NCBI Gene

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

• Prostate cancer susceptibility
• Hereditary cancer-predisposing syndrome
• Prostate cancer, hereditary
• 9
• Carcinoma of pancreas
• Familial prostate cancer
• HOXB13-Related Cancer Predisposition
• Breast and/or ovarian cancer
• HOXB13-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

rs138213197

Gene

HOXB13

Position (GRCh38)

chr17:48728342

Variant type

snv

Consequence

missense variant

ClinVar classification

Pathogenic/Likely pathogenic; association

Genome-wide association studies (20)

How common the less frequent letter is

gnomAD ALL

99.8%

1kG AFR

100%

1kG ALL

100%

1kG AMR

100%

1kG EAS

100%

1kG EUR

0.1%

1kG SAS

100%

Sources

• dbSNP: rs138213197 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: HOXB13
• Ensembl: HOXB13
• GWAS Catalog — association studies

Related

Other variants in HOXB13

• rs145059285
• rs200997384
• rs77179853
• rs763448911
• rs780012601
• rs746542615
• rs769145488
• rs779780541
• rs748333323
• rs1555558690

• The HOXB13 gene
• SNP explorer
• Gene directory
• Health conditions