NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) AND Permanent neonatal diabetes mellitus

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000020356.2

Allele description [Variation Report for NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu)]

NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu)

Genes:
ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]
KCNJ11:potassium voltage-gated channel subfamily J member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu)
HGVS:
  • NC_000011.10:g.17388025T>C
  • NG_012446.1:g.5635A>G
  • NM_000525.3:c.67A>G
  • NM_001166290.1:c.-16-179A>G
  • NP_000516.3:p.Lys23Glu
  • NC_000011.9:g.17409572T>C
Protein change:
E23K; GLU23LYS
Links:
OMIM: 600937.0014; dbSNP: rs5219
NCBI 1000 Genomes Browser:
rs5219
Molecular consequence:
  • NM_001166290.1:c.-16-179A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000525.3:c.67A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Permanent neonatal diabetes mellitus (PNDM)
Identifiers:
MedGen: C1833104; OMIM: 606176

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040740GeneReviewsno assertion criteria providedbenign
(Jul 5, 2011)
not providedcuration

SCV000483236Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000040740.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV000483236.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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