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NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys) AND Permanent neonatal diabetes mellitus

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 24, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001827134.1

Allele description [Variation Report for NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys)]

NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys)

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.874G>A (p.Glu292Lys)
HGVS:
  • NC_000011.10:g.17387218C>T
  • NG_012446.1:g.6442G>A
  • NM_000525.4:c.874G>AMANE SELECT
  • NM_001166290.2:c.613G>A
  • NM_001377296.1:c.613G>A
  • NM_001377297.1:c.613G>A
  • NP_000516.3:p.Glu292Lys
  • NP_000516.3:p.Glu292Lys
  • NP_001159762.1:p.Glu205Lys
  • NP_001364225.1:p.Glu205Lys
  • NP_001364226.1:p.Glu205Lys
  • NC_000011.9:g.17408765C>T
  • NC_000011.9:g.17408765C>T
  • NM_000525.3:c.874G>A
Protein change:
E205K
Links:
dbSNP: rs1174593640
NCBI 1000 Genomes Browser:
rs1174593640
Molecular consequence:
  • NM_000525.4:c.874G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166290.2:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377296.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377297.1:c.613G>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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002085104Natera, Inc.
no assertion criteria provided
Uncertain significance
(Dec 24, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002085104.1

#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: May 7, 2024