Genetic variant
rs80338758 a variant in the MED12 gene
rs80338758 is a single-letter difference in the MED12 gene, on chromosome X. 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 FG syndrome 1 and 6 conditions, 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 rs80338758 is the catalogue number of one of them, in the MED12 gene. Which letters you carry there — one copy from each parent — is your genotype.
MED12 (mediator complex subunit 12): The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C.
Gene description from NCBI Gene
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. [OMIM:?]
From SNPedia
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
- FG syndrome 1
- 6 conditions
- Blepharophimosis - intellectual disability syndrome
- MKB type
- X-linked intellectual disability with marfanoid habitus
- Intellectual disability
- Familial thoracic aortic aneurysm and aortic dissection
- FG syndrome
- MED12-related disorder
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 rs80338758, 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
- rs80338758
- Gene
- MED12
- Position
- chrX:71127367
- ClinVar classification
- Pathogenic/Likely pathogenic
Sources
- dbSNP: rs80338758 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: MED12
- Ensembl: MED12