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NM_000525.4(KCNJ11):c.617G>A (p.Arg206His) AND Hyperinsulinemic hypoglycemia, familial, 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 6, 2019
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:
RCV001506970.1

Allele description [Variation Report for NM_000525.4(KCNJ11):c.617G>A (p.Arg206His)]

NM_000525.4(KCNJ11):c.617G>A (p.Arg206His)

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.617G>A (p.Arg206His)
HGVS:
  • NC_000011.10:g.17387475C>T
  • NG_012446.1:g.6185G>A
  • NM_000525.4:c.617G>AMANE SELECT
  • NM_001166290.2:c.356G>A
  • NM_001377296.1:c.356G>A
  • NM_001377297.1:c.356G>A
  • NP_000516.3:p.Arg206His
  • NP_001159762.1:p.Arg119His
  • NP_001364225.1:p.Arg119His
  • NP_001364226.1:p.Arg119His
  • NC_000011.9:g.17409022C>T
  • NM_000525.3:c.617G>A
Protein change:
R119H
Links:
dbSNP: rs1554901747
NCBI 1000 Genomes Browser:
rs1554901747
Molecular consequence:
  • NM_000525.4:c.617G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166290.2:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377296.1:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377297.1:c.356G>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001653803NxGen MDx
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 6, 2019) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel dominant K(ATP) channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.

Boodhansingh KE, Kandasamy B, Mitteer L, Givler S, De Leon DD, Shyng SL, Ganguly A, Stanley CA.

Am J Med Genet A. 2019 Nov;179(11):2214-2227. doi: 10.1002/ajmg.a.61335. Epub 2019 Aug 28.

PubMed [citation]
PMID:
31464105
PMCID:
PMC6852436

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From NxGen MDx, SCV001653803.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (2)

Description

The missense variant c.617G>A (p.Arg206His) on exon 1 of KCNJ11 is not found in gnomAD databases (PM2). This variant has several pathogenic computational verdicts (PP3) and is reported in Boodhansingh et al. (PMID 31464105) in 2 unrelated infants affected with congenital hyperinsulinism. Functional data of this variant from the same study shows total loss of efflux (PS3). We interpret c.617G>A to be likely pathogenic.

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

Last Updated: Feb 16, 2025