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Aneurysm-osteoarthritis syndrome

SMAD3 · rs2140319954

Where this position leads

Condition: Osteoarthritis

rs2140319954 Condition: Osteoarthritis Osteoarthritis Condition rs2140319954 rs2140319954 SMAD3

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 Aneurysm-osteoarthritis syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-06-28. ClinVar record 1709587 NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter)

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

G/G No copy of the version ClinVar lists as likely disease-causing for Aneurysm-osteoarthritis syndrome. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV001709587, criteria provided, single submitter)
G/T One copy of the version ClinVar lists as likely disease-causing for Aneurysm-osteoarthritis syndrome. 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 VCV001709587, criteria provided, single submitter)
T/T Two copies of the version ClinVar lists as likely disease-causing for Aneurysm-osteoarthritis syndrome. 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 VCV001709587, criteria provided, single submitter)

Source: ClinVar VCV001709587, criteria provided, single submitter

Questions about rs2140319954

What is rs2140319954?

rs2140319954 is a single position in the genome, in or near the SMAD3 gene. Published research associates it with aneurysm-osteoarthritis syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2140319954 linked to?

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

Does having rs2140319954 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 rs2140319954 come from?

ClinVar VCV001709587, 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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Aneurysm-osteoarthritis syndrome (rs2140319954). MyGeneLog™. https://www.mygenelog.com/variants/rs2140319954

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