Sensitive

Fanconi-Bickel syndrome

SLC2A2 · rs2108244550

Where this position leads

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

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 benign for Fanconi-Bickel syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-03-08. ClinVar record 2825956 NM_000340.2(SLC2A2):c.613-7T>C

Classification Likely pathogenic for Fanconi-Bickel syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-02-07. ClinVar record 1339449 NM_000340.2(SLC2A2):c.613-7T>G

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 likely disease-causing for Fanconi-Bickel syndrome. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV001339449, criteria provided, single submitter)

A/C One copy of the version ClinVar lists as likely disease-causing for Fanconi-Bickel 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 VCV001339449, criteria provided, single submitter)

C/C Two copies of the version ClinVar lists as likely disease-causing for Fanconi-Bickel 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 VCV001339449, criteria provided, single submitter)

Source: ClinVar VCV001339449, criteria provided, single submitter

Questions about rs2108244550

What is rs2108244550?

rs2108244550 is a single position in the genome, in or near the SLC2A2 gene. Published research associates it with fanconi-bickel syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does rs2108244550 affect how medicines work?

SLC2A2 carries pharmacogenomic findings for Metformin. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.

Does having rs2108244550 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 rs2108244550 come from?

ClinVar VCV001339449, 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.

Fanconi-Bickel syndrome (rs2108244550). MyGeneLog™. https://www.mygenelog.com/variants/rs2108244550

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