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NM_000525.4(KCNJ11):c.936C>T (p.Gly312=) AND Maturity onset diabetes mellitus in young

Germline classification:
Uncertain significance (1 submission)
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:
RCV002226746.1

Allele description [Variation Report for NM_000525.4(KCNJ11):c.936C>T (p.Gly312=)]

NM_000525.4(KCNJ11):c.936C>T (p.Gly312=)

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.936C>T (p.Gly312=)
HGVS:
  • NC_000011.10:g.17387156G>A
  • NG_012446.1:g.6504C>T
  • NM_000525.4:c.936C>TMANE SELECT
  • NM_001166290.2:c.675C>T
  • NM_001377296.1:c.675C>T
  • NM_001377297.1:c.675C>T
  • NP_000516.3:p.Gly312=
  • NP_000516.3:p.Gly312=
  • NP_001159762.1:p.Gly225=
  • NP_001364225.1:p.Gly225=
  • NP_001364226.1:p.Gly225=
  • NC_000011.9:g.17408703G>A
  • NC_000011.9:g.17408703G>A
  • NM_000525.3:c.936C>T
Links:
dbSNP: rs139445409
NCBI 1000 Genomes Browser:
rs139445409
Molecular consequence:
  • NM_000525.4:c.936C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001166290.2:c.675C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001377296.1:c.675C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001377297.1:c.675C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Maturity onset diabetes mellitus in young (MODY)
Synonyms:
Mason type diabetes
Identifiers:
MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002505431Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

(K&H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria)
Uncertain significancesomaticresearch

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus.

Haghvirdizadeh P, Mohamed Z, Abdullah NA, Haghvirdizadeh P, Haerian MS, Haerian BS.

J Diabetes Res. 2015;2015:908152. doi: 10.1155/2015/908152. Epub 2015 Sep 13. Review.

PubMed [citation]
PMID:
26448950
PMCID:
PMC4584059

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
See all PubMed Citations (5)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002505431.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearch PubMed (5)

Description

Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. It is also associated with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of rs139445409 variant in MODY yet.

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

Last Updated: Sep 29, 2024