rs73885319 a variant in the APOL1 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 rs73885319 is the catalogue number of one of them, in the APOL1 gene. Which letters you carry there — one copy from each parent — is your genotype.

APOL1 (apolipoprotein L1): This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells.

Gene description from NCBI Gene

The derived allele of coding SNP rs73885319 (p.S342G) defines, together with the derived allele of c...

From SNPedia

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

• Hyalinosis
• Segmental Glomerular
• Sickled erythrocytes
• Focal segmental glomerulosclerosis
• Nephrotic range proteinuria
• Proteinuria
• Steroid-resistant nephrotic syndrome
• Glomerulonephritis
• APOL1-associated kidney disease
• Focal segmental glomerulosclerosis 4, susceptibility to

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

rs73885319

Gene

APOL1

Position

chr22:36265860

ClinVar classification

Conflicting classifications of pathogenicity; risk factor

Genome-wide association studies (20)

Sources

• dbSNP: rs73885319 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: APOL1
• Ensembl: APOL1
• GWAS Catalog — association studies

Related

Other variants in APOL1

• rs2016225115
• rs71785313
• rs60910145
• rs1569534160
• rs1428826948
• rs772138899
• rs1449418628
• rs759590339
• rs147973675

• The APOL1 gene
• SNP explorer
• Gene directory
• Health conditions