Genetic variant
rs587777443 a variant in the HSD17B4 gene
rs587777443 is a single-letter difference in the HSD17B4 gene, on chromosome 5. ClinVar, the public archive of variant interpretations, lists it as likely pathogenic: probably able to cause or contribute to disease. It has been reported in connection with Perrault syndrome 1 and Bifunctional peroxisomal enzyme deficiency, among others. Carrying it does not, on its own, mean you have or will develop any condition.
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 rs587777443 is the catalogue number of one of them, in the HSD17B4 gene. Which letters you carry there — one copy from each parent — is your genotype.
HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4): The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD).
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
- Perrault syndrome 1
- Bifunctional peroxisomal enzyme deficiency
- Rare genetic deafness
- Perrault syndrome
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?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs587777443, if your test read this position.
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?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- 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
- rs587777443
- Gene
- HSD17B4
- Position
- chr5:119525259
- ClinVar classification
- Pathogenic/Likely pathogenic
Sources
- dbSNP: rs587777443 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: HSD17B4
- Ensembl: HSD17B4