Genetic variant
rs121912543 a variant in the VSX2 gene
rs121912543 is a single-letter difference in the VSX2 gene, on chromosome 14. 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 Microphthalmia, cataracts, and iris abnormalities and Isolated microphthalmia 2, 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 rs121912543 is the catalogue number of one of them, in the VSX2 gene. Which letters you carry there — one copy from each parent — is your genotype.
VSX2 (visual system homeobox 2): This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]
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
- Microphthalmia, cataracts, and iris abnormalities
- Isolated microphthalmia 2
- VSX2-related disorder, isolated, with coloboma 3
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 rs121912543, 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
- rs121912543
- Gene
- VSX2
- Position
- chr14:74259621
- ClinVar classification
- Pathogenic/Likely pathogenic
Sources
- dbSNP: rs121912543 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: VSX2
- Ensembl: VSX2