NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu) AND Neonatal hypoglycemia

Germline classification:: Benign (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:: RCV002226651.1

Allele description [Variation Report for NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu)]

NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu)

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.103T>C (p.Phe35Leu)

HGVS:

NC_000011.10:g.17387989A>G
NG_012446.1:g.5671T>C
NM_000525.4:c.103T>CMANE SELECT
NM_001166290.2:c.-16-143T>C
NM_001377296.1:c.-17+29T>C
NM_001377297.1:c.-16-143T>C
NP_000516.3:p.Phe35Leu
NP_000516.3:p.Phe35Leu
NC_000011.9:g.17409536A>G
NM_000525.3:c.103T>C

Protein change:

F35L

Links:

dbSNP: rs193929333

NCBI 1000 Genomes Browser:

rs193929333

Molecular consequence:

NM_001166290.2:c.-16-143T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001377296.1:c.-17+29T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001377297.1:c.-16-143T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000525.4:c.103T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neonatal hypoglycemia
Identifiers:: MedGen: C0158986; Human Phenotype Ontology: HP:0001998

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002505476	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K&H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria)	Benign	somatic	research	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002505476

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

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

Benign

somatic

research

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Pharmacogenomics in type II diabetes mellitus management: Steps toward personalized medicine.

Avery P, Mousa SS, Mousa SA.

Pharmgenomics Pers Med. 2009;2:79-91. Epub 2009 Sep 13.

PubMed [citation]

PMID:: 23226037
PMCID:: PMC3513204

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002505476.1

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

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. F35V of KCNJ11gene (rs193929333) can increase susceptibility to neonatal diabetes.

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

Last Updated: Oct 8, 2022

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