Standard

Cystic fibrosis

CFTR · rs397508775

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, CFTR-related disorder; reviewed by expert panel (3 of 4 stars, 7 submitters), last evaluated 2017-03-17. ClinVar record 54033 NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)

Classification Uncertain significance for Cystic fibrosis; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2025-10-23. ClinVar record 1753752 NM_000492.4(CFTR):c.647G>C (p.Trp216Ser)

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

A/A 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 VCV000054033, reviewed by expert panel)

A/G 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 VCV000054033, reviewed by expert panel)

G/G No copy of the version ClinVar lists as disease-causing for Cystic fibrosis. This is the usual result. (ClinVar VCV000054033, reviewed by expert panel)

Source: ClinVar VCV000054033, reviewed by expert panel

Questions about rs397508775

What is rs397508775?

rs397508775 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 rs397508775 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 rs397508775 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 rs397508775 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 rs397508775 come from?

ClinVar VCV000054033, 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

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Cystic fibrosis (rs397508775). MyGeneLog™. https://www.mygenelog.com/variants/rs397508775

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