Genetic variant

rs143043662 a variant in the JUP gene

rs143043662 is a single-letter difference in the JUP gene, on chromosome 17. ClinVar, the public archive of variant interpretations, lists it as conflicting interpretations: laboratories that have assessed it do not agree on whether it matters. It has been reported in connection with Cardiovascular phenotype and Cardiomyopathy, among others. Carrying it does not, on its own, mean you have or will develop any condition.

ClinVar: Conflicting interpretations
Health Risk
Chromosome 17

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 rs143043662 is the catalogue number of one of them, in the JUP gene. Which letters you carry there — one copy from each parent — is your genotype.

JUP (junction plakoglobin): This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat.
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

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 rs143043662, 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.

Upload blood results

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: rs143043662
Gene: JUP
Position (GRCh38): chr17:41757518
Variant type: snv
Consequence: missense variant
ClinVar classification: Conflicting classifications of pathogenicity

Genome-wide association studies (4)

Trait	Risk allele	OR / beta	P-value	Study
Heel bone mineral density	—	β 0.078	2E-16	PubMed
Heel bone mineral density	—	—	4E-16	PubMed
Heel bone mineral density	C	β 0.069	3E-15	PubMed
Heel bone mineral density	C	β 0.087	5E-6	PubMed

How common the less frequent letter is

gnomAD ALL: 98.9%
1kG AFR: 99.8%
1kG ALL: 99.7%
1kG AMR: 99.7%
1kG EAS: 100%
1kG EUR: 99.3%
1kG SAS: 99.8%

Sources

dbSNP: rs143043662 — the reference record
ClinVar — clinical interpretations submitted by laboratories
SNPedia — community-written summaries
NCBI Gene: JUP
Ensembl: JUP
GWAS Catalog — association studies