NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu) AND Neonatal diabetes mellitus

Germline classification:: Likely pathogenic (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:: RCV002052019.1

Allele description [Variation Report for NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu)]

NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu)

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.754G>T (p.Val252Leu)

HGVS:

NC_000011.10:g.17387338C>A
NG_012446.1:g.6322G>T
NM_000525.4:c.754G>TMANE SELECT
NM_001166290.2:c.493G>T
NM_001377296.1:c.493G>T
NM_001377297.1:c.493G>T
NP_000516.3:p.Val252Leu
NP_001159762.1:p.Val165Leu
NP_001364225.1:p.Val165Leu
NP_001364226.1:p.Val165Leu
NC_000011.9:g.17408885C>A

Protein change:

V165L

Links:

dbSNP: rs2133379609

NCBI 1000 Genomes Browser:

rs2133379609

Molecular consequence:

NM_000525.4:c.754G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001166290.2:c.493G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001377296.1:c.493G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001377297.1:c.493G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neonatal diabetes mellitus (NDM)
Identifiers:: MONDO: MONDO:0016391; MedGen: C0158981

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002318400	Molecular Genetics, Madras Diabetes Research Foundation	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 32893419, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002318400

Molecular Genetics, Madras Diabetes Research Foundation

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Indians	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genotype-phenotype correlation of K(ATP) channel gene defects causing permanent neonatal diabetes in Indian patients.

Gopi S, Kavitha B, Kanthimathi S, Kannan A, Kumar R, Joshi R, Kanodia S, Arya AD, Pendsey S, Pendsey S, Raghupathy P, Mohan V, Radha V.

Pediatr Diabetes. 2021 Feb;22(1):82-92. doi: 10.1111/pedi.13109. Epub 2020 Sep 15.

PubMed [citation]

PMID:: 32893419

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Molecular Genetics, Madras Diabetes Research Foundation, SCV002318400.1

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

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

Last Updated: Dec 24, 2023

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