NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) 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:: RCV002226658.2

Allele description [Variation Report for NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)]

NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)

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.1154C>G (p.Ser385Cys)

HGVS:

NC_000011.10:g.17386938G>C
NG_012446.1:g.6722C>G
NM_000525.4:c.1154C>GMANE SELECT
NM_001166290.2:c.893C>G
NM_001377296.1:c.893C>G
NM_001377297.1:c.893C>G
NP_000516.3:p.Ser385Cys
NP_000516.3:p.Ser385Cys
NP_001159762.1:p.Ser298Cys
NP_001364225.1:p.Ser298Cys
NP_001364226.1:p.Ser298Cys
NC_000011.9:g.17408485G>C
NM_000525.3:c.1154C>G

Protein change:

S298C

Links:

dbSNP: rs41282930

NCBI 1000 Genomes Browser:

rs41282930

Molecular consequence:

NM_000525.4:c.1154C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001166290.2:c.893C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377296.1:c.893C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377297.1:c.893C>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
SCV002505477	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 (3) [See all records that cite these PMIDs] 26448950, 15580558, 15718250 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002505477

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 (3)
[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

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 (3)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002505477.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (3)

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 rs41282930 variant in Diabetes Mellitus yet.

#	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: Oct 8, 2024

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