NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs) AND Maturity onset diabetes mellitus in young

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 21, 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:: RCV002380620.3

Allele description [Variation Report for NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)]

NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)

Other names:

NM_000162.5(GCK):c.1295_1297delinsGCCG; p.Pro432fs

HGVS:

NC_000007.14:g.44145237_44145239delinsCGGC
NG_008847.2:g.57932_57934delinsGCCG
NM_000162.5:c.1295_1297delinsGCCGMANE SELECT
NM_001354800.1:c.1295_1297delinsGCCG
NM_001354801.1:c.284_286delinsGCCG
NM_001354802.1:c.155_157delinsGCCG
NM_001354803.2:c.329_331delinsGCCG
NM_033507.3:c.1298_1300delinsGCCG
NM_033508.3:c.1292_1294delinsGCCG
NP_000153.1:p.Pro432fs
NP_001341729.1:p.Pro432fs
NP_001341730.1:p.Pro95fs
NP_001341731.1:p.Pro52fs
NP_001341732.1:p.Pro110fs
NP_277042.1:p.Pro433fs
NP_277043.1:p.Pro431fs
LRG_1074t1:c.1295_1297delinsGCCG
LRG_1074t2:c.1298_1300delinsGCCG
LRG_1074:g.57932_57934delinsGCCG
LRG_1074p1:p.Pro432fs
LRG_1074p2:p.Pro433fs
NC_000007.13:g.44184836_44184838delinsCGGC
NM_000162.3:c.1295_1297delCCAinsGCCG

Protein change:

P110fs

Molecular consequence:

NM_000162.5:c.1295_1297delinsGCCG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354800.1:c.1295_1297delinsGCCG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354801.1:c.284_286delinsGCCG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354802.1:c.155_157delinsGCCG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354803.2:c.329_331delinsGCCG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033507.3:c.1298_1300delinsGCCG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033508.3:c.1292_1294delinsGCCG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Maturity onset diabetes mellitus in young (MODY)
Synonyms:: Mason type diabetes
Identifiers:: MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

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Astringents
Astringents
Agents, usually topical, that cause the contraction of tissues for the control of bleeding or secretions.<br/>Year introduced: ANTIPERSPIRANTS was see ASTRINGENTS 1985-1994

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002695490	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 21, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002695490

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 21, 2016)

germline

clinical testing

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

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

Citations

PubMed

Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

Cappelli A, Tumini S, Consoli A, Carinci S, Piersanti C, Ruggiero G, Simonella G, Soletti F, Staffolani P, Pianese L.

Diabetes Res Clin Pract. 2009 Mar;83(3):e72-4. doi: 10.1016/j.diabres.2008.12.007. Epub 2009 Jan 15.

PubMed [citation]

PMID:: 19150152

Details of each submission

From Ambry Genetics, SCV002695490.2

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

Description

The c.1295_1297delCCAinsGCCG pathogenic mutation, located in coding exon 10 of the GCK gene, results from the deletion of 3 nucleotides and insertion of 4 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.P432Rfs*27). This mutation was first described in a proband with a clinical diagnosis of MODY. The mutation reportedly co-segregated with disease in three of her family members and in none of the normoglycemic relatives (Cappelli A, Diabetes Res. Clin. Pract. 2009 Mar; 83(3):e72-4). In addition to the clinical data presented in the literature, since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#	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: May 1, 2024

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