NM_000162.5(GCK):c.431_432delinsCT (p.Leu144Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 31, 2023
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:: RCV003740508.1

Allele description [Variation Report for NM_000162.5(GCK):c.431_432delinsCT (p.Leu144Pro)]

NM_000162.5(GCK):c.431_432delinsCT (p.Leu144Pro)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.431_432delinsCT (p.Leu144Pro)

HGVS:

NC_000007.14:g.44151007_44151008delinsAG
NG_008847.2:g.52163_52164delinsCT
NM_000162.5:c.431_432delinsCTMANE SELECT
NM_001354800.1:c.431_432delinsCT
NM_033507.3:c.434_435delinsCT
NM_033508.3:c.428_429delinsCT
NP_000153.1:p.Leu144Pro
NP_001341729.1:p.Leu144Pro
NP_277042.1:p.Leu145Pro
NP_277043.1:p.Leu143Pro
LRG_1074t1:c.431_432delinsCT
LRG_1074t2:c.434_435delinsCT
LRG_1074:g.52163_52164delinsCT
LRG_1074p1:p.Leu144Pro
LRG_1074p2:p.Leu145Pro
NC_000007.13:g.44190606_44190607delinsAG

Protein change:

L143P

Molecular consequence:

NM_000162.5:c.431_432delinsCT - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.431_432delinsCT - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.434_435delinsCT - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.428_429delinsCT - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004562481	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Uncertain significance (Aug 31, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004562481

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Uncertain significance
(Aug 31, 2023)

germline

clinical testing

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004562481.1

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

Description

The GCK c.431_432delinsCT; p.Leu144Pro variant is reported in the literature in individuals affected with suspected maturity-onset diabetes of the young (MODY; Toaima 2005). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. Additionally, another variant at this codon (c.431T>C; p.Leu144Pro) has been reported in individuals with MODY (Bennett 2015, Chambers 2015). Due to limited information, the clinical significance of the c.431_432delinsCT; p.Leu144Pro variant is uncertain at this time. References: Bennett JT et al. Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. Mol Genet Metab. 2015 Mar;114(3):451-8. PMID: 25555642. Chambers C et al. Characteristics of maturity onset diabetes of the young in a large diabetes center. Pediatr Diabetes. 2016 Aug;17(5):360-7. PMID: 26059258. Toaima D et al. Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY). Hum Mutat. 2005 May;25(5):503-4. PMID: 15841481.

#	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: Feb 28, 2024

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