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Pulmonary arterial hypertension associated with congenital heart disease

BMPR2 · rs1085307244

Where this position leads

Condition: Pulmonary Arterial Hypertension

rs1085307244 Condition: Pulmonary Arterial Hypertension Pulmonary Arterial Hypertension Condition rs1085307244 rs1085307244 BMPR2

Strength of the evidence

1 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 0 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 associated with congenital heart disease; no assertion criteria provided (0 of 4 stars, 1 submitter). ClinVar record 425805 NM_001204.7(BMPR2):c.556A>G (p.Met186Val)

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 No copy of the version ClinVar lists as disease-causing for Pulmonary arterial hypertension associated with congenital heart disease. This is the usual result. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000425805, no assertion criteria provided)
A/G One copy of the version ClinVar lists as disease-causing for Pulmonary arterial hypertension associated with congenital heart disease. 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. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000425805, no assertion criteria provided)
G/G Two copies of the version ClinVar lists as disease-causing for Pulmonary arterial hypertension associated with congenital heart disease. 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. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000425805, no assertion criteria provided)

Source: ClinVar VCV000425805, no assertion criteria provided

Questions about rs1085307244

What is rs1085307244?

rs1085307244 is a single position in the genome, in or near the BMPR2 gene. Published research associates it with pulmonary arterial hypertension associated with congenital heart disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1085307244 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 rs1085307244 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 rs1085307244 come from?

ClinVar VCV000425805, no assertion criteria provided. 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 associated with congenital heart disease (rs1085307244). MyGeneLog™. https://www.mygenelog.com/variants/rs1085307244

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