NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND Type 2 diabetes mellitus

Germline classification:: Benign (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002226643.9

Allele description [Variation Report for NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)]

NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)

Genes:

ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]
KCNJ11:potassium inwardly rectifying channel subfamily J member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)

Other names:

E23K

HGVS:

NC_000011.10:g.17388025T>C
NG_012446.1:g.5635A>G
NM_000525.4:c.67A>GMANE SELECT
NM_001166290.2:c.-16-179A>G
NM_001377296.1:c.-24A>G
NM_001377297.1:c.-16-179A>G
NP_000516.3:p.Lys23Glu
NP_000516.3:p.Lys23Glu
NC_000011.9:g.17409572T>C
NM_000525.3:c.67A>G

Protein change:

K23E; GLU23LYS

Links:

OMIM: 600937.0014; dbSNP: rs5219

NCBI 1000 Genomes Browser:

rs5219

Molecular consequence:

NM_001377296.1:c.-24A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001166290.2:c.-16-179A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001377297.1:c.-16-179A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000525.4:c.67A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Type 2 diabetes mellitus
Synonyms:: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
Identifiers:: MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002505643	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K&H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria)	Benign	somatic	research	PubMed (2) [See all records that cite these PMIDs] 22591706, 29893194 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002505643

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K&H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria)

Benign

somatic

research

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Association of KCNJ11 E23K gene polymorphism with hypoglycemia in sulfonylurea-treated type 2 diabetic patients.

Ragia G, Tavridou A, Petridis I, Manolopoulos VG.

Diabetes Res Clin Pract. 2012 Oct;98(1):119-24. doi: 10.1016/j.diabres.2012.04.017. Epub 2012 May 14.

PubMed [citation]

PMID:: 22591706

Genetic polymorphisms in KCNJ11 (E23K, rs5219) and SDF-1β (G801A, rs1801157) genes are associated with the risk of type 2 diabetes mellitus.

Rizvi S, Raza ST, Mahdi F, Singh SP, Rajput M, Rahman Q.

Br J Biomed Sci. 2018 Jul;75(3):139-144. doi: 10.1080/09674845.2018.1473939. Epub 2018 Jun 12.

PubMed [citation]

PMID:: 29893194

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002505643.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (2)

Description

Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which is responsive to oral sulfonylureas. KCNJ11 rs5219- E23K is associated with Type II Diabetes Mellitus. It doesnt cause any sensitivity towards mild hypoglycemia, an adverse effect of Sulfonylurea treatment.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 25, 2025

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