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NM_000525.4(KCNJ11):c.*766G>A 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:
RCV002227245.1

Allele description [Variation Report for NM_000525.4(KCNJ11):c.*766G>A]

NM_000525.4(KCNJ11):c.*766G>A

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.*766G>A
HGVS:
  • NC_000011.10:g.17386153C>T
  • NG_012446.1:g.7507G>A
  • NM_000525.4:c.*766G>AMANE SELECT
  • NM_001166290.2:c.*766G>A
  • NM_001377296.1:c.*766G>A
  • NM_001377297.1:c.*766G>A
  • NC_000011.9:g.17407700C>T
  • NM_000525.3:c.*766G>A
Links:
dbSNP: rs193101892
NCBI 1000 Genomes Browser:
rs193101892
Molecular consequence:
  • NM_000525.4:c.*766G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166290.2:c.*766G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377296.1:c.*766G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377297.1:c.*766G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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
SCV002505950Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)
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

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo G, Crinó A, Lorini R, Cerutti F, Vanelli M, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology..

Hum Mutat. 2005 Jan;25(1):22-7.

PubMed [citation]
PMID:
15580558
See all PubMed Citations (5)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002505950.1

#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 this particular variant (rs193101892) in MODY yet.

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

Last Updated: Jul 15, 2024