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Idiopathic Pulmonary Fibrosis

TERT · rs2478106403

Where this position leads

Condition: Idiopathic Pulmonary Fibrosis

rs2478106403 Condition: Idiopathic Pulmonary Fibrosis Idiopathic Pulmonary Fibrosis Condition rs2478106403 rs2478106403 TERT

Strength of the evidence

2 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 1 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 Likely pathogenic for Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita, autosomal dominant 2; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-05-10. ClinVar record 1931718 NM_198253.3(TERT):c.3032+1G>C

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 No copy of the version ClinVar lists as likely disease-causing for Idiopathic Pulmonary Fibrosis. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV001931718, criteria provided, single submitter)
C/G One copy of the version ClinVar lists as likely disease-causing for Idiopathic Pulmonary 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. So far only one lab has made this call, so it may change. (ClinVar VCV001931718, criteria provided, single submitter)
G/G Two copies of the version ClinVar lists as likely disease-causing for Idiopathic Pulmonary 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. So far only one lab has made this call, so it may change. (ClinVar VCV001931718, criteria provided, single submitter)

Source: ClinVar VCV001931718, criteria provided, single submitter

Questions about rs2478106403

What is rs2478106403?

rs2478106403 is a single position in the genome, in or near the TERT gene. Published research associates it with idiopathic pulmonary 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 rs2478106403 linked to?

On MyGeneLog this position is linked to Idiopathic Pulmonary Fibrosis. The research behind each link, and its sources, are set out on that condition page.

Does having rs2478106403 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 rs2478106403 come from?

ClinVar VCV001931718, criteria provided, single submitter. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Idiopathic Pulmonary Fibrosis (rs2478106403). MyGeneLog™. https://www.mygenelog.com/variants/rs2478106403

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