Sensitive

Maturity-onset diabetes of the young type 2

GCK · rs104894005

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

4 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 3 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 Maturity-onset diabetes of the young type 2, Monogenic diabetes; reviewed by expert panel (3 of 4 stars, 2 submitters), last evaluated 2026-10-29. ClinVar record 16132 NM_000162.5(GCK):c.835G>T (p.Glu279Ter)

Classification Benign for Maturity-onset diabetes of the young type 2, Hyperinsulinemic hypoglycemia, familial, 3, Type 2 diabetes mellitus, Monogenic diabetes; reviewed by expert panel (3 of 4 stars, 8 submitters), last evaluated 2025-10-03. ClinVar record 211076 NM_000162.5(GCK):c.835G>C (p.Glu279Gln)

Classification Uncertain significance for Monogenic diabetes; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2025-11-20. ClinVar record 1338598 NM_000162.5(GCK):c.835G>A (p.Glu279Lys)

Change history 2026-11-01: Benign → Pathogenic.

What this is ClinVar's aggregate record for this position (as of its 2026-11-01 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.

How common each version is

CG

Japanese ToMMo

C 100.0%

World 1000 Genomes

C 100.0% · G 0.0%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. No Korean figure for this position yet.

What each result means

A/A Two copies of the version ClinVar lists as disease-causing for Maturity-onset diabetes of the young type 2. 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 VCV000016132, no assertion criteria provided)

A/C One copy of the version ClinVar lists as disease-causing for Maturity-onset diabetes of the young type 2. 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 VCV000016132, no assertion criteria provided)

C/C No copy of the version ClinVar lists as disease-causing for Maturity-onset diabetes of the young type 2. 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 VCV000016132, no assertion criteria provided)

Source: ClinVar VCV000016132, no assertion criteria provided

From our blog

A family tree drawn as a strand of DNA, one line of it highlighted from parent to child

World Diabetes Day: MODY, the Diabetes That Runs in Families Through One Gene

Most diabetes is type 1 or type 2. A small share comes from a single gene, passes straight from parent to chil…

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

Maturity-onset diabetes of the young type 2 (rs104894005). MyGeneLog™. https://www.mygenelog.com/variants/rs104894005

← See all variants