Genetic variant

rs369856286 a variant in the ELP1 gene

rs369856286 is a single-letter difference in the ELP1 gene, on chromosome 9. 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 Familial dysautonomia. Carrying it does not, on its own, mean you have or will develop any condition.

ClinVar: Conflicting interpretations
Health Risk
Chromosome 9

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 rs369856286 is the catalogue number of one of them, in the ELP1 gene. Which letters you carry there — one copy from each parent — is your genotype.

ELP1 (elongator acetyltransferase complex subunit 1): The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia.
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

Familial dysautonomia

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 rs369856286, 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: rs369856286
Gene: ELP1
Position: chr9:108902925
ClinVar classification: Conflicting classifications of pathogenicity

Sources

dbSNP: rs369856286 — the reference record
ClinVar — clinical interpretations submitted by laboratories
SNPedia — community-written summaries
NCBI Gene: ELP1
Ensembl: ELP1