Standard

Cystic fibrosis

CFTR · rs397508222

Where this position leads

Condition: Cystic Fibrosis

Drugs: Elexacaftor/tezacaftor/ivacaftor (Trikafta), Ivacaftor, Vanzacaftor/tezacaftor/deutivacaftor (Alyftrek)

Strength of the evidence

4 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 3 of 4 stars.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Pathogenic for Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1, CFTR-related disorder; reviewed by expert panel (3 of 4 stars, 9 submitters), last evaluated 2018-08-31. ClinVar record 53272 NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)

Classification Conflicting classifications of pathogenicity for Cystic fibrosis; criteria provided, conflicting classifications (1 of 4 stars, 3 submitters), last evaluated 2021-07-22. ClinVar record 53271 NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn)

Classification Likely pathogenic for Cystic fibrosis; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-11-05. ClinVar record 618895 NM_000492.4(CFTR):c.1505T>G (p.Ile502Ser)

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

C/C Two copies of the version ClinVar lists as disease-causing for Cystic fibrosis. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. (ClinVar VCV000053272, reviewed by expert panel)

C/T One copy of the version ClinVar lists as disease-causing for Cystic fibrosis. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. (ClinVar VCV000053272, reviewed by expert panel)

T/T No copy of the version ClinVar lists as disease-causing for Cystic fibrosis. This is the usual result. (ClinVar VCV000053272, reviewed by expert panel)

Source: ClinVar VCV000053272, reviewed by expert panel

Questions about rs397508222

What is rs397508222?

rs397508222 is a single position in the genome, in or near the CFTR gene. Published research associates it with cystic fibrosis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs397508222 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 rs397508222 affect how medicines work?

CFTR carries pharmacogenomic findings for Elexacaftor/tezacaftor/ivacaftor (Trikafta), Ivacaftor, Vanzacaftor/tezacaftor/deutivacaftor (Alyftrek). 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 rs397508222 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 rs397508222 come from?

ClinVar VCV000053272, reviewed by expert panel. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Cystic fibrosis (rs397508222). MyGeneLog™. https://www.mygenelog.com/variants/rs397508222

← See all variants