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Autosomal recessive limb-girdle muscular dystrophy type 2X

BVES · rs2114489353

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

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 Autosomal recessive limb-girdle muscular dystrophy type 2X; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2022-08-25. ClinVar record 1702994 NM_001199563.2(BVES):c.578T>G (p.Ile193Ser)

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 Autosomal recessive limb-girdle muscular dystrophy type 2X. 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 VCV001702994, no assertion criteria provided)
A/C One copy of the version ClinVar lists as disease-causing for Autosomal recessive limb-girdle muscular dystrophy type 2X. 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 VCV001702994, no assertion criteria provided)
C/C Two copies of the version ClinVar lists as disease-causing for Autosomal recessive limb-girdle muscular dystrophy type 2X. 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 VCV001702994, no assertion criteria provided)

Source: ClinVar VCV001702994, no assertion criteria provided

Questions about rs2114489353

What is rs2114489353?

rs2114489353 is a single position in the genome, in or near the BVES gene. Published research associates it with autosomal recessive limb-girdle muscular dystrophy type 2x. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2114489353 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 rs2114489353 come from?

ClinVar VCV001702994, 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

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

Autosomal recessive limb-girdle muscular dystrophy type 2X (rs2114489353). MyGeneLog™. https://www.mygenelog.com/variants/rs2114489353

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