-/-Both copies carry F508del. This is the most common genotype in people with cystic fibrosis, and somebody with this result who does not have a diagnosis should treat it as a reason to seek testing rather than as the answer: cystic fibrosis is diagnosed by a sweat chloride test alongside genetic testing, in a clinic, and a consumer array is not a diagnostic instrument.
ATCTT/-One copy carries F508del. This is the carrier state, and carriers do not have cystic fibrosis and do not develop it. Roughly one person in 25 of European ancestry carries some CF-causing variant. It matters for one reason only: if a partner also carries one, each pregnancy has a one in four chance of a child with the condition — which is a conversation with a genetic counsellor rather than a conclusion to draw from a file.
ATCTT/ATCTTNeither copy carries the deletion at this position. This is the common result and it does not rule out being a CFTR carrier: more than two thousand CFTR variants have been described and a consumer array tests a few dozen of them. A file with nothing in it here is not a negative carrier screen.
F508del is the most common CF-causing variant, accounting for around 70% of CF alleles in people of European ancestry. It is a folding fault: the protein is made but never reaches the cell surface. That is why ivacaftor alone does not help somebody who carries only this variant — there is no channel at the surface for it to act on — and why the combination therapies that followed it pair a corrector with a potentiator.
Clinical pharmacology and therapeutics · 2014 · PMID 24598717
Questions about rs113993960
What is rs113993960?
rs113993960 is a single position in the genome, in or near the CFTR gene. Published research associates it with cystic fibrosis (f508del). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs113993960 linked to?
On MyGeneLog this position is linked to Cystic Fibrosis. The research behind each link, and its sources, are set out on that condition page.
Does rs113993960 affect how medicines work?
CFTR carries pharmacogenomic findings for Ivacaftor. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.
Does having rs113993960 mean I will get this?
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
Where does the information about rs113993960 come from?
CPIC Guideline for Ivacaftor Therapy in the Context of CFTR Genotype (Clin Pharmacol Ther 2014, PMID 24598717). Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.