rs28929470 a variant in the SERPINA1 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 rs28929470 is the catalogue number of one of them, in the SERPINA1 gene. Which letters you carry there — one copy from each parent — is your genotype.

SERPINA1 (serpin family A member 1): The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut.

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

• PI F
• Alpha-1-antitrypsin deficiency
• Inborn genetic diseases
• SERPINA1-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 related to SERPINA1

• ALT
• AST
• Fev1

Can affect lung and liver function. Relevant if you have unexplained liver or lung issues.

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

rs28929470

Gene

SERPINA1

Position

chr14:94381049

ClinVar classification

Conflicting classifications of pathogenicity

Genome-wide association studies (18)

Sources

• dbSNP: rs28929470 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: SERPINA1
• Ensembl: SERPINA1
• GWAS Catalog — association studies

Related

Other variants in SERPINA1

• rs121912712
• rs199422209
• rs28931568
• rs28929474
• rs17580
• rs28931569
• rs112030253
• rs28931570
• rs121912714
• rs267606950

• The SERPINA1 gene
• SNP explorer
• Gene directory
• Health conditions