Genetic variant
rs202179988 a variant in the CFTR gene
rs202179988 is a single-letter difference in the CFTR gene, on chromosome 7. ClinVar, the public archive of variant interpretations, lists it as drug response: linked to how the body handles certain medicines. It has been reported in connection with Congenital bilateral aplasia of vas deferens from CFTR mutation and Cystic fibrosis, 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 rs202179988 is the catalogue number of one of them, in the CFTR gene. Which letters you carry there — one copy from each parent — is your genotype.
CFTR (CF transmembrane conductance regulator): This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis.
Gene description from NCBI Gene
Why might it matter?
ClinVar records this variant as drug response, meaning linked to how the body handles certain medicines. 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
- Congenital bilateral aplasia of vas deferens from CFTR mutation
- Cystic fibrosis
- ivacaftor response - Efficacy
- CFTR-related disorder
- Congenital bilateral absence of vas deferens
- Bronchiectasis with or without elevated sweat chloride 1
- Hereditary pancreatitis
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 rs202179988, 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 related to CFTR
Carrier status — important for family planning.
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
- rs202179988
- Gene
- CFTR
- Position
- chr7:117611649
- ClinVar classification
- drug response
Sources
- dbSNP: rs202179988 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: CFTR
- Ensembl: CFTR