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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

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000792247Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Jun 13, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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

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

Last Updated: Sep 16, 2024