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Pulmonary arterial hypertension

BMPR2 · rs765887545

Where this position leads

Condition: Pulmonary Arterial Hypertension

rs765887545 Condition: Pulmonary Arterial Hypertension Pulmonary Arterial Hypertension Condition rs765887545 rs765887545 BMPR2

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 Pathogenic for Pulmonary arterial hypertension, Pulmonary hypertension, primary, 1, Pulmonary venoocclusive disease 1; criteria provided, single submitter (1 of 4 stars, 3 submitters), last evaluated 2022-09-07. ClinVar record 425965 NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter)

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 disease-causing for Pulmonary arterial hypertension. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000425965, criteria provided, single submitter)
C/T One copy of the version ClinVar lists as disease-causing for Pulmonary arterial hypertension. 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 VCV000425965, criteria provided, single submitter)
T/T Two copies of the version ClinVar lists as disease-causing for Pulmonary arterial hypertension. 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 VCV000425965, criteria provided, single submitter)

Source: ClinVar VCV000425965, criteria provided, single submitter

Questions about rs765887545

What is rs765887545?

rs765887545 is a single position in the genome, in or near the BMPR2 gene. Published research associates it with pulmonary arterial hypertension. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs765887545 linked to?

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

Does having rs765887545 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 rs765887545 come from?

ClinVar VCV000425965, 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

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.

Pulmonary arterial hypertension (rs765887545). MyGeneLog™. https://www.mygenelog.com/variants/rs765887545

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