NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro) AND Diabetes mellitus, permanent neonatal 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2005
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001089464.2

Allele description [Variation Report for NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro)]

NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro)

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>C (p.Arg50Pro)

HGVS:

NC_000011.10:g.17387943C>G
NG_012446.1:g.5717G>C
NM_000525.4:c.149G>CMANE SELECT
NM_001166290.2:c.-16-97G>C
NM_001377296.1:c.-17+75G>C
NM_001377297.1:c.-16-97G>C
NP_000516.3:p.Arg50Pro
NP_000516.3:p.Arg50Pro
NC_000011.9:g.17409490C>G
NM_000525.3:c.149G>C

Protein change:

R50P; ARG50PRO

Links:

OMIM: 600937.0006; dbSNP: rs80356611

NCBI 1000 Genomes Browser:

rs80356611

Molecular consequence:

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

Condition(s)

Name:: Diabetes mellitus, permanent neonatal 2
Identifiers:: MONDO: MONDO:0030087; MedGen: C5394296; OMIM: 618856

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029423	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2005)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029423

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2005)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

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

Details of each submission

From OMIM, SCV000029423.4

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

Description

In an Italian patient with permanent neonatal diabetes mellitus (PNDM2; 618856), Massa et al. (2005) identified a 149G-C transversion in the KCNJ11 gene, resulting in an arg50-to-pro (R50P) substitution. The patient had no neurologic abnormalities.

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

Last Updated: May 12, 2024

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