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NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter) AND Hyperinsulinemic hypoglycemia, familial, 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 16, 2015
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:
RCV000234886.2

Allele description [Variation Report for NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter)]

NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter)

Gene:
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.154C>T (p.Gln52Ter)
HGVS:
  • NC_000011.10:g.17387938G>A
  • NG_012446.1:g.5722C>T
  • NM_000525.4:c.154C>TMANE SELECT
  • NM_001166290.2:c.-16-92C>T
  • NM_001377296.1:c.-17+80C>T
  • NM_001377297.1:c.-16-92C>T
  • NP_000516.3:p.Gln52Ter
  • NP_000516.3:p.Gln52Ter
  • NC_000011.9:g.17409485G>A
  • NM_000525.3:c.154C>T
  • p.(Gln52*)
Protein change:
Q52*
Links:
dbSNP: rs879253757
NCBI 1000 Genomes Browser:
rs879253757
Molecular consequence:
  • NM_001166290.2:c.-16-92C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377296.1:c.-17+80C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377297.1:c.-16-92C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000525.4:c.154C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Name:
Hyperinsulinemic hypoglycemia, familial, 2
Synonyms:
HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL
Identifiers:
MONDO: MONDO:0011153; MedGen: C2931833; Orphanet: 276580; Orphanet: 276603; OMIM: 601820

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000292231Center of Genomic medicine, Geneva, University Hospital of Geneva - Final Reports_Cases2015_1
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 16, 2015) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Center of Genomic medicine, Geneva, University Hospital of Geneva - Final Reports_Cases2015_1, SCV000292231.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

This recessive mutation in the KCNJ11 gene was found in a case of congenital hyperinsulinemic hypoglycemia. The combination of this mutation with a second recessive mutation (c.440T>C) in the same gene explains the phenotype of this newborn patient.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Apr 28, 2025