NM_000525.4(KCNJ11):c.847ATC[1] (p.Ile284del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 20, 2022
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:: RCV003037368.2

Allele description [Variation Report for NM_000525.4(KCNJ11):c.847ATC[1] (p.Ile284del)]

NM_000525.4(KCNJ11):c.847ATC[1] (p.Ile284del)

Gene:

KCNJ11:potassium inwardly rectifying channel subfamily J member 11 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_000525.4(KCNJ11):c.847ATC[1] (p.Ile284del)

HGVS:

NC_000011.10:g.17387240GAT[1]
NG_012446.1:g.6415ATC[1]
NG_122013.1:g.807GAT[1]
NG_122014.1:g.153GAT[1]
NM_000525.4:c.847ATC[1]MANE SELECT
NM_001166290.2:c.586ATC[1]
NM_001377296.1:c.586ATC[1]
NM_001377297.1:c.586ATC[1]
NP_000516.3:p.Ile284del
NP_001159762.1:p.Ile197del
NP_001364225.1:p.Ile197del
NP_001364226.1:p.Ile197del
NC_000011.9:g.17408787GAT[1]
NC_000011.9:g.17408787_17408789del

Protein change:

I197del

Molecular consequence:

NM_000525.4:c.847ATC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001166290.2:c.586ATC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001377296.1:c.586ATC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001377297.1:c.586ATC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003439610	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 20, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 23275527, 25201519, 21674179, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003439610

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 20, 2022)

germline

clinical testing

PubMed (4)
[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

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

Snider KE, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A.

J Clin Endocrinol Metab. 2013 Feb;98(2):E355-63. doi: 10.1210/jc.2012-2169. Epub 2012 Dec 28.

PubMed [citation]

PMID:: 23275527
PMCID:: PMC3565119

Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.

Arya VB, Guemes M, Nessa A, Alam S, Shah P, Gilbert C, Senniappan S, Flanagan SE, Ellard S, Hussain K.

Eur J Endocrinol. 2014 Dec;171(6):685-95. doi: 10.1530/EJE-14-0353. Epub 2014 Sep 8.

PubMed [citation]

PMID:: 25201519

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003439610.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant, c.850_852del, results in the deletion of 1 amino acid(s) of the KCNJ11 protein (p.Ile284del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with autosomal dominant hyperinsulinaemic hypoglycaemia and autosomal recessive congenital hyperinsulinism (PMID: 21674179, 23275527, 25201519). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects KCNJ11 function (PMID: 21674179). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain 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

Last Updated: Sep 29, 2024

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