NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) 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:: RCV002226426.2

Allele description [Variation Report for NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)]

NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)

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.808C>G (p.Leu270Val)

HGVS:

NC_000011.10:g.17387284G>C
NG_012446.1:g.6376C>G
NM_000525.4:c.808C>GMANE SELECT
NM_001166290.2:c.547C>G
NM_001377296.1:c.547C>G
NM_001377297.1:c.547C>G
NP_000516.3:p.Leu270Val
NP_000516.3:p.Leu270Val
NP_001159762.1:p.Leu183Val
NP_001364225.1:p.Leu183Val
NP_001364226.1:p.Leu183Val
NC_000011.9:g.17408831G>C
NM_000525.3:c.808C>G

Protein change:

L183V

Links:

dbSNP: rs1800467

NCBI 1000 Genomes Browser:

rs1800467

Molecular consequence:

NM_000525.4:c.808C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001166290.2:c.547C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377296.1:c.547C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377297.1:c.547C>G - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002505382	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K&H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria)	Uncertain significance	somatic	research	PubMed (2) [See all records that cite these PMIDs] 25247988, 33324081 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002505382

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

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

Uncertain significance

somatic

research

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Population specific impact of genetic variants in KCNJ11 gene to type 2 diabetes: a case-control and meta-analysis study.

Phani NM, Guddattu V, Bellampalli R, Seenappa V, Adhikari P, Nagri SK, D Souza SC, Mundyat GP, Satyamoorthy K, Rai PS.

PLoS One. 2014;9(9):e107021. doi: 10.1371/journal.pone.0107021. Review.

PubMed [citation]

PMID:: 25247988
PMCID:: PMC4172481

Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes.

Bouldjennet F, Gjesing AP, Azzouz M, Abderrahman SA, El Guecier A, Ali S, Oudjit B, Mennadi-Lacete F, Yargui L, Boudiba A, Chibane A, Touil-Boukoffa C, Hansen T, Raache R.

Diabetes Metab Syndr Obes. 2020;13:4829-4837. doi: 10.2147/DMSO.S269251.

PubMed [citation]

PMID:: 33324081
PMCID:: PMC7733395

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002505382.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (2)

Description

Mutations in the KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which is responsive to oral sulfonylureas. However, the variant rs1800467 might not pose increased sensitivity to Type II Diabetes by itself but in combination with other variants in KCNJ11 or INS and HNF1A increase predisposition to insulin resistance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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