Genetic variant

rs72550870 a variant in the MASP2 gene

rs72550870 is a single-letter difference in the MASP2 gene, on chromosome 1. 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 Immunodeficiency due to MASP-2 deficiency and MASP2-related disorder. Carrying it does not, on its own, mean you have or will develop any condition.

Register free Do I have this variant?

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 rs72550870 is the catalogue number of one of them, in the MASP2 gene. Which letters you carry there — one copy from each parent — is your genotype.

MASP2 (MBL associated serine protease 2): This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system.

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 rs72550870, if your test read this position.

Register free Upload DNA Log in

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?

  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.
Register free Upload DNA Upload blood results Ask Dr. Hemsworth

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
rs72550870
Gene
MASP2
Position (GRCh38)
chr1:11046608
Variant type
snv
Consequence
missense variant
ClinVar classification
Conflicting classifications of pathogenicity

Genome-wide association studies (5)

TraitRisk alleleOR / betaP-valueStudy
Kidney-associated antigen 1 levels T OR 1.01 2E-142 PubMed
FCN2 protein levels C OR 0.2 2E-51 PubMed
FCN1 protein levels C OR 0.14 3E-20 PubMed
ANGPTL7 protein levels C OR 0.13 2E-15 PubMed
MASP1 protein levels C OR 0.12 2E-14 PubMed

How common the less frequent letter is

gnomAD ALL
2.7%
1kG AFR
0.1%
1kG ALL
98.8%
1kG AMR
2.3%
1kG EAS
100%
1kG EUR
3.9%
1kG SAS
99.6%

Sources