NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) AND Islet cell hyperplasia

Clinical significance:Benign (Last evaluated: Apr 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000576501.1

Allele description [Variation Report for NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu)]

NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu)

Genes:
ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]
KCNJ11:potassium voltage-gated channel subfamily J member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu)
HGVS:
  • NC_000011.10:g.17388025T>C
  • NG_012446.1:g.5635A>G
  • NM_000525.3:c.67A>G
  • NM_001166290.1:c.-16-179A>G
  • NP_000516.3:p.Lys23Glu
  • NC_000011.9:g.17409572T>C
Protein change:
E23K; GLU23LYS
Links:
OMIM: 600937.0014; dbSNP: rs5219
NCBI 1000 Genomes Browser:
rs5219
Molecular consequence:
  • NM_001166290.1:c.-16-179A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000525.3:c.67A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Islet cell hyperplasia (HHF2)
Synonyms:
HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA; HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, CONGENITAL; See all synonyms [MedGen]
Identifiers:
MedGen: C2931833; Orphanet: 276580; Orphanet: 276603; OMIM: 601820

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000677330Athena Diagnostics Inccriteria provided, single submitter
Benign
(Apr 28, 2017)
germlineclinical testing

PubMed (23)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Missense mutations in the pancreatic islet beta cell inwardly rectifying K+ channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in Caucasians.

Hani EH, Boutin P, Durand E, Inoue H, Permutt MA, Velho G, Froguel P.

Diabetologia. 1998 Dec;41(12):1511-5.

PubMed [citation]
PMID:
9867219

The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia.

Tschritter O, Stumvoll M, Machicao F, Holzwarth M, Weisser M, Maerker E, Teigeler A, Häring H, Fritsche A.

Diabetes. 2002 Sep;51(9):2854-60.

PubMed [citation]
PMID:
12196481
See all PubMed Citations (23)

Details of each submission

From Athena Diagnostics Inc, SCV000677330.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (23)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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