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

Germline classification:: Benign (3 submissions)
Last evaluated:: Jun 14, 2016
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:: RCV000020356.16

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:: Permanent neonatal diabetes mellitus (PNDM)
Synonyms:: Permanent diabetes mellitus of infancy
Identifiers:: MONDO: MONDO:0100164; MedGen: C1833104; OMIM: PS606176

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000040740	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (12) [See all records that cite these PMIDs] 11318841, 11692183, 12540637, 12540638, 15111507, 15579791, 15797964, 17463246, 17463248, 17463249, 9867219, 20301620
SCV000483236	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV001459969	Natera, Inc.	no assertion criteria provided	Benign (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000040740

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (12)
[See all records that cite these PMIDs]

SCV000483236

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV001459969

Natera, Inc.

no assertion criteria provided

Benign
(Sep 16, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53).

Gloyn AL, Hashim Y, Ashcroft SJ, Ashfield R, Wiltshire S, Turner RC; UK Prospective Diabetes Study (UKPDS 53)..

Diabet Med. 2001 Mar;18(3):206-12. Erratum in: Diabet Med. 2003 Mar;20(3):252..

PubMed [citation]

PMID:: 11318841

Genetic variability of the SUR1 promoter in relation to beta-cell function and Type II diabetes mellitus.

Hansen T, Ambye L, Grarup N, Hansen L, Echwald SM, Ferrer J, Pedersen O.

Diabetologia. 2001 Oct;44(10):1330-4.

PubMed [citation]

PMID:: 11692183

See all PubMed Citations (12)

Details of each submission

From GeneReviews, SCV000040740.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (12)

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

From Illumina Laboratory Services, Illumina, SCV000483236.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

From Natera, Inc., SCV001459969.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Jul 29, 2024

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