NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) AND Maturity-onset diabetes of the young type 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 18, 2011
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:: RCV000029853.2

Allele description [Variation Report for NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)]

NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)

Other names:

NM_000162.5(GCK):c.1279_1358delinsTTACA

HGVS:

NC_000007.14:g.44145176_44145255delinsTGTAA
NG_008847.2:g.57916_57995delinsTTACA
NM_000162.5:c.1279_1358delinsTTACAMANE SELECT
NM_001354800.1:c.1279_1358delinsTTACA
NM_001354801.1:c.268_347delinsTTACA
NM_001354802.1:c.139_218delinsTTACA
NM_001354803.2:c.313_392delinsTTACA
NM_033507.3:c.1282_1361delinsTTACA
NM_033508.3:c.1276_1355delinsTTACA
NP_000153.1:p.Val427_Ser453delinsLeuGln
NP_001341729.1:p.Val427_Ser453delinsLeuGln
NP_001341730.1:p.Val90_Ser116delinsLeuGln
NP_001341731.1:p.Val47_Ser73delinsLeuGln
NP_001341732.1:p.Val105_Ser131delinsLeuGln
NP_277042.1:p.Val428_Ser454delinsLeuGln
NP_277043.1:p.Val426_Ser452delinsLeuGln
LRG_1074t1:c.1279_1358delinsTTACA
LRG_1074t2:c.1282_1361delinsTTACA
LRG_1074:g.57916_57995delinsTTACA
LRG_1074p1:p.Val427_Ser453delinsLeuGln
LRG_1074p2:p.Val428_Ser454delinsLeuGln
NC_000007.13:g.44184775_44184854delinsTGTAA
NC_000007.13:g.44184775_44184854delinsTGTAA
NM_000162.3:c.1279_1358del80insTTACA

Links:

dbSNP: rs193922274

NCBI 1000 Genomes Browser:

rs193922274

Molecular consequence:

NM_000162.5:c.1279_1358delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354800.1:c.1279_1358delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354801.1:c.268_347delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354802.1:c.139_218delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354803.2:c.313_392delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_033507.3:c.1282_1361delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_033508.3:c.1276_1355delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]

Observations:

Condition(s)

Name:: Maturity-onset diabetes of the young type 2
Synonyms:: MODY type 2; Diabetes mellitus MODY type 2; MODY glucokinase-related; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007453; MedGen: C0342277; Orphanet: 552; OMIM: 125851

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Gene ID:103748807

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000052508	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	likely pathogenic (Aug 18, 2011)	germline	curation, clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000052508

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

likely pathogenic
(Aug 18, 2011)

germline

curation, clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	2	not provided	curation
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052508.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	curation	not provided
2	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Poster abstract: Author mentions 28 families screened for GCK mutations; this variant is said to be novel variant; number of individuals with this mutation not specified; family history with vertical transmission is given so considered at least two individuals with this variant. Controls not tested.

Description

Converted during submission to Likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	2	not provided	not provided		2	not provided	not provided	not provided
2	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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