NM_000525.4(KCNJ11):c.575G>A (p.Arg192His) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 13, 2017
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:: RCV000667748.3

Allele description [Variation Report for NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)]

NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)

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.575G>A (p.Arg192His)

HGVS:

NC_000011.10:g.17387517C>T
NG_012446.1:g.6143G>A
NM_000525.4:c.575G>AMANE SELECT
NM_001166290.2:c.314G>A
NM_001377296.1:c.314G>A
NM_001377297.1:c.314G>A
NP_000516.3:p.Arg192His
NP_000516.3:p.Arg192His
NP_001159762.1:p.Arg105His
NP_001364225.1:p.Arg105His
NP_001364226.1:p.Arg105His
NC_000011.9:g.17409064C>T
NM_000525.3:c.575G>A

Protein change:

R105H

Links:

dbSNP: rs750778014

NCBI 1000 Genomes Browser:

rs750778014

Molecular consequence:

NM_000525.4:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001166290.2:c.314G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377296.1:c.314G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377297.1:c.314G>A - 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

Name:: Diabetes mellitus, transient neonatal, 3
Identifiers:: MONDO: MONDO:0012522; MedGen: C1864623; Orphanet: 99886; OMIM: 610582

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
SCV000792247	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jun 13, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000792247

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Jun 13, 2017)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes.

Liu L, Nagashima K, Yasuda T, Liu Y, Hu HR, He G, Feng B, Zhao M, Zhuang L, Zheng T, Friedman TC, Xiang K.

Diabetologia. 2013 Dec;56(12):2609-18. doi: 10.1007/s00125-013-3031-9. Epub 2013 Sep 10.

PubMed [citation]

PMID:: 24018988
PMCID:: PMC5333983

Details of each submission

From Counsyl, SCV000792247.1

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

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

Last Updated: Sep 16, 2024

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