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NM_000525.4(KCNJ11):c.684C>T (p.Gly228=) AND Permanent neonatal diabetes mellitus

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 29, 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:
RCV001280337.1

Allele description [Variation Report for NM_000525.4(KCNJ11):c.684C>T (p.Gly228=)]

NM_000525.4(KCNJ11):c.684C>T (p.Gly228=)

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.684C>T (p.Gly228=)
HGVS:
  • NC_000011.10:g.17387408G>A
  • NG_012446.1:g.6252C>T
  • NM_000525.4:c.684C>TMANE SELECT
  • NM_001166290.2:c.423C>T
  • NM_001377296.1:c.423C>T
  • NM_001377297.1:c.423C>T
  • NP_000516.3:p.Gly228=
  • NP_001159762.1:p.Gly141=
  • NP_001364225.1:p.Gly141=
  • NP_001364226.1:p.Gly141=
  • NC_000011.9:g.17408955G>A
Links:
dbSNP: rs746308356
NCBI 1000 Genomes Browser:
rs746308356
Molecular consequence:
  • NM_000525.4:c.684C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001166290.2:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001377296.1:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001377297.1:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001467513Natera, Inc.
no assertion criteria provided
Uncertain significance
(Aug 29, 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., SCV001467513.1

#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: Feb 28, 2024