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NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter) 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:
RCV002227028.1

Allele description [Variation Report for NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter)]

NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter)

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.36C>A (p.Tyr12Ter)
HGVS:
  • NC_000011.10:g.17388056G>T
  • NG_012446.1:g.5604C>A
  • NM_000525.4:c.36C>AMANE SELECT
  • NM_001166290.2:c.-16-210C>A
  • NM_001377296.1:c.-55C>A
  • NM_001377297.1:c.-16-210C>A
  • NP_000516.3:p.Tyr12Ter
  • NC_000011.9:g.17409603G>T
Protein change:
Y12*; TYR12TER
Links:
OMIM: 600937.0009; dbSNP: rs104894236
NCBI 1000 Genomes Browser:
rs104894236
Molecular consequence:
  • NM_001377296.1:c.-55C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001166290.2:c.-16-210C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377297.1:c.-16-210C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000525.4:c.36C>A - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002505941Clinical 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 (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.

Galcheva S, Demirbilek H, Al-Khawaga S, Hussain K.

Front Endocrinol (Lausanne). 2019;10:111. doi: 10.3389/fendo.2019.00111. Review.

PubMed [citation]
PMID:
30873120
PMCID:
PMC6401612

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002505941.1

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

Description

Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which is responsive to oral sulfonylureas. However, No sufficient evidence is found to ascertain the role of this particular variant (rs104894236) in MODY.

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

Last Updated: Sep 29, 2024