NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) AND Hyperinsulinemic hypoglycemia, familial, 2

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Apr 28, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000576830.7

Allele description [Variation Report for NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)]

NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)

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.570C>T (p.Ala190=)

Other names:

p.Ala190=

HGVS:

NC_000011.10:g.17387522G>A
NG_012446.1:g.6138C>T
NM_000525.4:c.570C>TMANE SELECT
NM_001166290.2:c.309C>T
NM_001377296.1:c.309C>T
NM_001377297.1:c.309C>T
NP_000516.3:p.Ala190=
NP_000516.3:p.Ala190=
NP_001159762.1:p.Ala103=
NP_001364225.1:p.Ala103=
NP_001364226.1:p.Ala103=
NC_000011.9:g.17409069G>A
NM_000525.3:c.570C>T
p.Ala190Ala

Links:

dbSNP: rs5218

Molecular consequence:

NM_000525.4:c.570C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001166290.2:c.309C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001377296.1:c.309C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001377297.1:c.309C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Hyperinsulinemic hypoglycemia, familial, 2
Synonyms:: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL
Identifiers:: MONDO: MONDO:0011153; MedGen: C2931833; Orphanet: 276580; Orphanet: 276603; OMIM: 601820

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000369176	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	Citation Link,
SCV000677329	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Apr 28, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 14551916, 18290324, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000369176

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

Citation Link,

SCV000677329

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Apr 28, 2017)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action.

Barroso I, Luan J, Middelberg RP, Harding AH, Franks PW, Jakes RW, Clayton D, Schafer AJ, O'Rahilly S, Wareham NJ.

PLoS Biol. 2003 Oct;1(1):E20. Epub 2003 Oct 13. Erratum in: PLoS Biol. 2003 Dec;1(3):445.

PubMed [citation]

PMID:: 14551916
PMCID:: PMC212698

Alanine in HI: a silent mutation cries out!

Shah JH, Maguire DJ, Munce TB, Cotterill A.

Adv Exp Med Biol. 2008;614:145-50. doi: 10.1007/978-0-387-74911-2_17.

PubMed [citation]

PMID:: 18290324

See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000369176.3

#	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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 Athena Diagnostics, SCV000677329.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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

Last Updated: Apr 12, 2026

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