Standard

Familial thoracic aortic aneurysm and aortic dissection

FBN1 · rs2141240523

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

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 Marfan syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-10-01. ClinVar record 1299642 NM_000138.5(FBN1):c.6380A>G (p.Asp2127Gly)

Classification Conflicting classifications of pathogenicity for Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome; criteria provided, conflicting classifications (1 of 4 stars, 3 submitters), last evaluated 2021-03-01. ClinVar record 1325439 NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val)

Classification Uncertain significance for Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2020-12-03. ClinVar record 1427197 NM_000138.5(FBN1):c.6380A>C (p.Asp2127Ala)

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 labs disagree about for Familial thoracic aortic aneurysm and aortic dissection: in ClinVar, some labs call it disease-causing and others do not. 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 VCV001325439, criteria provided, conflicting classifications)

A/T One copy of the version labs disagree about for Familial thoracic aortic aneurysm and aortic dissection: in ClinVar, some labs call it disease-causing and others do not, so what one copy means is not settled. A genetic counsellor can look at the separate records. (ClinVar VCV001325439, criteria provided, conflicting classifications)

T/T No copy of the version labs disagree about for Familial thoracic aortic aneurysm and aortic dissection: in ClinVar, some labs call it disease-causing and others do not. This is the usual result. (ClinVar VCV001325439, criteria provided, conflicting classifications)

Source: ClinVar VCV001325439, criteria provided, conflicting classifications

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Familial thoracic aortic aneurysm and aortic dissection (rs2141240523). MyGeneLog™. https://www.mygenelog.com/variants/rs2141240523

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