NM_000525.4(KCNJ11):c.819C>T (p.Ser273=) AND Maturity-onset diabetes of the young type 13

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Apr 27, 2017
Review status:: criteria provided, conflicting classifications

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:: RCV001105475.5

Allele description [Variation Report for NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)]

NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)

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.819C>T (p.Ser273=)

HGVS:

NC_000011.10:g.17387273G>A
NG_012446.1:g.6387C>T
NM_000525.4:c.819C>TMANE SELECT
NM_001166290.2:c.558C>T
NM_001377296.1:c.558C>T
NM_001377297.1:c.558C>T
NP_000516.3:p.Ser273=
NP_000516.3:p.Ser273=
NP_001159762.1:p.Ser186=
NP_001364225.1:p.Ser186=
NP_001364226.1:p.Ser186=
NC_000011.9:g.17408820G>A
NM_000525.3:c.819C>T

Links:

dbSNP: rs202238153

NCBI 1000 Genomes Browser:

rs202238153

Molecular consequence:

NM_000525.4:c.819C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001166290.2:c.558C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001377296.1:c.558C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001377297.1:c.558C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Maturity-onset diabetes of the young type 13
Synonyms:: MODY, TYPE 13
Identifiers:: MONDO: MONDO:0014589; MedGen: C4225365; Orphanet: 552; OMIM: 616329

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001262443	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	Citation Link,
SCV004698176	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K And H Uppaluri Personalized Medicine Clinic Variant Classification And Assertion Criteria Updated V 2)	Likely benign	unknown	research	PubMed (5) [See all records that cite these PMIDs] 26448950, 15580558, 15718250, 32935446, 22701567 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001262443

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

Citation Link,

SCV004698176

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K And H Uppaluri Personalized Medicine Clinic Variant Classification And Assertion Criteria Updated V 2)

Likely benign

unknown

research

PubMed (5)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus.

Haghvirdizadeh P, Mohamed Z, Abdullah NA, Haghvirdizadeh P, Haerian MS, Haerian BS.

J Diabetes Res. 2015;2015:908152. doi: 10.1155/2015/908152. Epub 2015 Sep 13. Review.

PubMed [citation]

PMID:: 26448950
PMCID:: PMC4584059

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

See all PubMed Citations (5)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001262443.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV004698176.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (5)

Description

Potent mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. It is also associated with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of this particular variant rs202238153 in MODY yet.

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

Last Updated: Mar 16, 2024

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