NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu) AND Hyperinsulinemic hypoglycemia, familial, 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2004
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:: RCV000009210.3

Allele description [Variation Report for NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu)]

NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu)

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.761C>T (p.Pro254Leu)

HGVS:

NC_000011.10:g.17387331G>A
NG_012446.1:g.6329C>T
NM_000525.4:c.761C>TMANE SELECT
NM_001166290.2:c.500C>T
NM_001377296.1:c.500C>T
NM_001377297.1:c.500C>T
NP_000516.3:p.Pro254Leu
NP_001159762.1:p.Pro167Leu
NP_001364225.1:p.Pro167Leu
NP_001364226.1:p.Pro167Leu
NC_000011.9:g.17408878G>A
NC_000011.9:g.17408878G>A

Protein change:

P167L; PRO254LEU

Links:

OMIM: 600937.0011; dbSNP: rs104894237

NCBI 1000 Genomes Browser:

rs104894237

Molecular consequence:

NM_000525.4:c.761C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001166290.2:c.500C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001377296.1:c.500C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001377297.1:c.500C>T - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029428	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029428

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 2004)

germline

literature only

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

Help

Summary from all submissions

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

Citations

PubMed

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

Tornovsky S, Crane A, Cosgrove KE, Hussain K, Lavie J, Heyman M, Nesher Y, Kuchinski N, Ben-Shushan E, Shatz O, Nahari E, Potikha T, Zangen D, Tenenbaum-Rakover Y, de Vries L, Argente J, Gracia R, Landau H, Eliakim A, Lindley K, Dunne MJ, Aguilar-Bryan L, et al.

J Clin Endocrinol Metab. 2004 Dec;89(12):6224-34.

PubMed [citation]

PMID:: 15579781

Details of each submission

From OMIM, SCV000029428.2

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

Description

In an Arab infant in whom a prenatal diagnosis of hyperinsulinism was made due to a family history of hyperinsulinemic hypoglycemia (HHF2; 601820), Tornovsky et al. (2004) identified homozygosity for a C-T transition at codon 254 in exon 1 of the KCNJ11 gene, resulting in a pro254-to-leu (P254L) substitution. Photolabeling studies after transient transfection into COSm6 cells revealed impaired trafficking of the mutant channel.

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

Last Updated: Oct 8, 2024

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