rs117706710 a variant in the AMPD3 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 rs117706710 is the catalogue number of one of them, in the AMPD3 gene. Which letters you carry there — one copy from each parent — is your genotype.

AMPD3 (adenosine monophosphate deaminase 3): This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells.

Gene description from NCBI Gene

Why might it matter?

ClinVar records this variant as conflicting interpretations, meaning laboratories that have assessed it do not agree on whether it matters. 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

• Erythrocyte AMP deaminase deficiency
• AMPD3-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

rs117706710

Gene

AMPD3

Position (GRCh38)

chr11:10487355

Variant type

snv

Consequence

missense variant

ClinVar classification

Conflicting classifications of pathogenicity

Genome-wide association studies (19)

How common the less frequent letter is

gnomAD ALL

0.8%

1kG AFR

100%

1kG ALL

99.7%

1kG AMR

0.3%

1kG EAS

100%

1kG EUR

99%

1kG SAS

99.8%

Sources

• dbSNP: rs117706710 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: AMPD3
• Ensembl: AMPD3
• GWAS Catalog — association studies

Related

Other variants in AMPD3

• rs3741040
• rs201980416
• rs150321693
• rs2539574847

• The AMPD3 gene
• SNP explorer
• Gene directory
• Health conditions