Genetic variant
rs74315294 a variant in the CPT2 gene
rs74315294 is a single-letter difference in the CPT2 gene, on chromosome 1. 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 Carnitine palmitoyl transferase II deficiency, myopathic form, neonatal form and Carnitine palmitoyltransferase II deficiency, severe infantile form, 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 rs74315294 is the catalogue number of one of them, in the CPT2 gene. Which letters you carry there — one copy from each parent — is your genotype.
CPT2 (carnitine palmitoyltransferase 2): The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
Gene description from NCBI Gene
minor allele should be reclassified as benign according to [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
- Carnitine palmitoyl transferase II deficiency, myopathic form, neonatal form
- Carnitine palmitoyltransferase II deficiency, severe infantile form
- Inborn genetic diseases
- Encephalopathy, acute, infection-induced, susceptibility to
- 4
- Rhabdomyolysis
- Abnormality of the musculature
- Ovarian serous cystadenocarcinoma
- Thymoma
- Thyroid cancer, nonmedullary
- 1
- Melanoma
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 rs74315294, 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
- rs74315294
- Gene
- CPT2
- Position
- chr1:53202427
- ClinVar classification
- Pathogenic/Likely pathogenic
Sources
- dbSNP: rs74315294 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: CPT2
- Ensembl: CPT2