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NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter) AND Hyperinsulinemic hypoglycemia, familial, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 1997
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000009208.3

Allele description [Variation Report for NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter)]

NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter)

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.36C>A (p.Tyr12Ter)
HGVS:
  • NC_000011.10:g.17388056G>T
  • NG_012446.1:g.5604C>A
  • NM_000525.4:c.36C>AMANE SELECT
  • NM_001166290.2:c.-16-210C>A
  • NM_001377296.1:c.-55C>A
  • NM_001377297.1:c.-16-210C>A
  • NP_000516.3:p.Tyr12Ter
  • NC_000011.9:g.17409603G>T
Protein change:
Y12*; TYR12TER
Links:
OMIM: 600937.0009; dbSNP: rs104894236
NCBI 1000 Genomes Browser:
rs104894236
Molecular consequence:
  • NM_001377296.1:c.-55C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001166290.2:c.-16-210C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377297.1:c.-16-210C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000525.4:c.36C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000029426OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 1997) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.

Nestorowicz A, Inagaki N, Gonoi T, Schoor KP, Wilson BA, Glaser B, Landau H, Stanley CA, Thornton PS, Seino S, Permutt MA.

Diabetes. 1997 Nov;46(11):1743-8.

PubMed [citation]
PMID:
9356020

Details of each submission

From OMIM, SCV000029426.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Palestinian Arab boy with hyperinsulinemic hypoglycemia (HHF2; 601820), born of first-cousin parents, Nestorowicz et al. (1997) identified homozygosity for a 39C-A transversion in the KCNJ11 gene, resulting in a tyr12-to-ter (Y12X) substitution. The mutation is predicted to produce a truncated Kir6.2 polypeptide lacking the putative K+ ion-selective pore region as well as those domains proposed to confer the gating and inward rectification properties of the molecule. In vitro studies in transfected COS-1 cells confirmed the deleterious effect of the mutation on channel activity. The authors noted that this patient was clinically indistinguishable from patients with severe hyperinsulinism caused by mutations in SUR1 (ABCC8; 600509; see HHF1, 600509).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024