NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup) AND Hyperinsulinism due to glucokinase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 27, 2016
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:: RCV000502957.6

Allele description [Variation Report for NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup)]

NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup)

HGVS:

NC_000007.14:g.44145171CCG[3]
NG_008847.2:g.57995CGG[3]
NM_000162.5:c.1358CGG[3]MANE SELECT
NM_001354800.1:c.1358CGG[3]
NM_001354801.1:c.347CGG[3]
NM_001354802.1:c.218CGG[3]
NM_001354803.2:c.392CGG[3]
NM_033507.3:c.1361CGG[3]
NM_033508.3:c.1355CGG[3]
NP_000153.1:p.Ala454dup
NP_001341729.1:p.Ala454dup
NP_001341730.1:p.Ala117dup
NP_001341731.1:p.Ala74dup
NP_001341732.1:p.Ala132dup
NP_277042.1:p.Ala455dup
NP_277043.1:p.Ala453dup
LRG_1074t1:c.1358CGG[3]
LRG_1074t2:c.1361CGG[3]
LRG_1074:g.57995CGG[3]
LRG_1074p1:p.Ala454dup
LRG_1074p2:p.Ala455dup
NC_000007.13:g.44184770CCG[3]
NM_000162.3:c.1361_1363dup

Links:

dbSNP: rs1554334433

NCBI 1000 Genomes Browser:

rs1554334433

Molecular consequence:

NM_000162.5:c.1358CGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001354800.1:c.1358CGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001354801.1:c.347CGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001354802.1:c.218CGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001354803.2:c.392CGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_033507.3:c.1361CGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_033508.3:c.1355CGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Hyperinsulinism due to glucokinase deficiency (HHF3)
Synonyms:: Hyperinsulinemic hypoglycemia familial 3
Identifiers:: MONDO: MONDO:0011236; MedGen: C1865290; OMIM: 602485

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000594945	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 27, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000594945

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 27, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

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 Genetic Services Laboratory, University of Chicago, SCV000594945.1

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

#	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: Apr 9, 2023

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