NM_000525.3(KCNJ11):c.157G>C (p.Gly53Arg) AND Transient neonatal diabetes mellitus 3

Clinical significance:Pathogenic (Last evaluated: Jul 5, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000009219.3

Allele description [Variation Report for NM_000525.3(KCNJ11):c.157G>C (p.Gly53Arg)]

NM_000525.3(KCNJ11):c.157G>C (p.Gly53Arg)

Gene:
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.157G>C (p.Gly53Arg)
HGVS:
  • NC_000011.10:g.17387935C>G
  • NG_012446.1:g.5725G>C
  • NM_000525.3:c.157G>C
  • NM_001166290.1:c.-16-89G>C
  • NP_000516.3:p.Gly53Arg
  • NC_000011.9:g.17409482C>G
Protein change:
G53R; GLY53ARG
Links:
OMIM: 600937.0018; dbSNP: 80356613
NCBI 1000 Genomes Browser:
rs80356613
Molecular consequence:
  • NM_001166290.1:c.-16-89G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000525.3:c.157G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Transient neonatal diabetes mellitus 3 (TNDM3)
Identifiers:
MedGen: C1864623; Orphanet: 99886; OMIM: 610582

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029437OMIMno assertion criteria providedPathogenic
(Apr 1, 2005)
germlineliterature only

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

SCV000040727GeneReviewsno assertion criteria providedpathologic
(Jul 5, 2011)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJ, Shield JP, Freedenberg D, Noyes K, Ellard S, Ashcroft FM, Gribble FM, Hattersley AT.

Hum Mol Genet. 2005 Apr 1;14(7):925-34. Epub 2005 Feb 17.

PubMed [citation]
PMID:
15718250

Details of each submission

From OMIM, SCV000029437.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a male proband with transient neonatal diabetes (TNDM3; 610582), Gloyn et al. (2005) identified a heterozygous G-to-C transversion in the KCNJ11 gene, resulting in a gly53-to-arg (G53R) substitution. The mutation was not identified in 100 control individuals. The proband had insulin-treated diabetes diagnosed at age 16 weeks and went into remission by 17 months with relapse at age 28 months. The affected mother was positive for the mutation and was diagnosed with diabetes at 11 weeks with no periods of remission. Both mother and son had learning difficulties. In transformed Xenopus oocytes, the G53R mutation resulted in a reduction in sensitivity to ATP when compared with wildtype; however, the effect was less than that of PNDM-associated mutations.

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

From GeneReviews, SCV000040727.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

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

Last Updated: Dec 9, 2017