Genetic variant

rs200919386 a variant in the MALT1 gene

rs200919386 is a single-letter difference in the MALT1 gene, on chromosome 18. 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 Combined immunodeficiency due to MALT1 deficiency. Carrying it does not, on its own, mean you have or will develop any condition.

ClinVar: Conflicting interpretations
Health Risk
Chromosome 18

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 rs200919386 is the catalogue number of one of them, in the MALT1 gene. Which letters you carry there — one copy from each parent — is your genotype.

MALT1 (MALT1 paracaspase): This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12).
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

Combined immunodeficiency due to MALT1 deficiency

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 rs200919386, 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: rs200919386
Gene: MALT1
Position: chr18:58700600
ClinVar classification: Conflicting classifications of pathogenicity

Sources

dbSNP: rs200919386 — the reference record
ClinVar — clinical interpretations submitted by laboratories
SNPedia — community-written summaries
NCBI Gene: MALT1
Ensembl: MALT1