NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly) 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:: RCV002226722.3

Allele description [Variation Report for NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly)]

NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly)

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.1016T>G (p.Val339Gly)

HGVS:

NC_000011.10:g.17387076A>C
NG_012446.1:g.6584T>G
NM_000525.4:c.1016T>GMANE SELECT
NM_001166290.2:c.755T>G
NM_001377296.1:c.755T>G
NM_001377297.1:c.755T>G
NP_000516.3:p.Val339Gly
NP_000516.3:p.Val339Gly
NP_001159762.1:p.Val252Gly
NP_001364225.1:p.Val252Gly
NP_001364226.1:p.Val252Gly
NC_000011.9:g.17408623A>C
NM_000525.3:c.1016T>G

Protein change:

V252G

Links:

dbSNP: rs138125678

NCBI 1000 Genomes Browser:

rs138125678

Molecular consequence:

NM_000525.4:c.1016T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001166290.2:c.755T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377296.1:c.755T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377297.1:c.755T>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
SCV002505458	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 (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002505458

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 (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	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes.

Bowman P, Day J, Torrens L, Shepherd MH, Knight BA, Ford TJ, Flanagan SE, Chakera A, Hattersley AT, Zeman A.

Diabetes Care. 2019 Feb;42(2):215-224. doi: 10.2337/dc18-1060. Epub 2018 Oct 30.

PubMed [citation]

PMID:: 30377186
PMCID:: PMC6354912

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002505458.1

#	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. Though rs138125678 (p.V252G) of KCNJ11 gene was seen in PNDM, its significance remains inconclusive. More studies are required to ascertain the role of rs138125678 variant in MODY.

#	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: Jun 29, 2024

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