NM_000525.4(KCNJ11):c.149G>T (p.Arg50Leu) AND Transitory neonatal diabetes mellitus

Germline classification:: Likely risk allele (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:: RCV002227391.2

Allele description [Variation Report for NM_000525.4(KCNJ11):c.149G>T (p.Arg50Leu)]

NM_000525.4(KCNJ11):c.149G>T (p.Arg50Leu)

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.149G>T (p.Arg50Leu)

HGVS:

NC_000011.10:g.17387943C>A
NG_012446.1:g.5717G>T
NM_000525.4:c.149G>TMANE SELECT
NM_001166290.2:c.-16-97G>T
NM_001377296.1:c.-17+75G>T
NM_001377297.1:c.-16-97G>T
NP_000516.3:p.Arg50Leu
NC_000011.9:g.17409490C>A

Protein change:

R50L

Links:

dbSNP: rs80356611

NCBI 1000 Genomes Browser:

rs80356611

Molecular consequence:

NM_001166290.2:c.-16-97G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001377296.1:c.-17+75G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001377297.1:c.-16-97G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000525.4:c.149G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Transitory neonatal diabetes mellitus
Synonyms:: Transient neonatal diabetes mellitus
Identifiers:: MONDO: MONDO:0020525; MedGen: C0342273; Human Phenotype Ontology: HP:0008255

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002505947	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Likely risk allele	somatic	research	PubMed (2) [See all records that cite these PMIDs] 25678012, 25739471 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002505947

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

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

Likely risk allele

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	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation.

Peña-Almazan S.

Diabetes Res Clin Pract. 2015 Apr;108(1):e18-20. doi: 10.1016/j.diabres.2014.12.010. Epub 2015 Jan 30.

PubMed [citation]

PMID:: 25678012

Water intake disorder in a DEND syndrome afflicted patient with R50P mutation.

Maejima Y, Hasegawa S, Horita S, Kumamoto K, Galvanovskis J, Takenoshita S, Shimomura K.

Endocr J. 2015;62(4):387-92. doi: 10.1507/endocrj.EJ14-0392. Epub 2015 Mar 14.

PubMed [citation]

PMID:: 25739471

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002505947.1

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

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. This particular variant (rs80356611) is associated with DEND syndrome.

#	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: Sep 29, 2024

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