NM_000162.5(GCK):c.1253+8C>T AND Maturity onset diabetes mellitus in young

Germline classification:: Benign (2 submissions)
Last evaluated:: Dec 8, 2014
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002227062.4

Allele description [Variation Report for NM_000162.5(GCK):c.1253+8C>T]

NM_000162.5(GCK):c.1253+8C>T

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1253+8C>T

HGVS:

NC_000007.14:g.44145489G>A
NG_008847.2:g.57682C>T
NM_000162.5:c.1253+8C>TMANE SELECT
NM_001354800.1:c.1253+8C>T
NM_001354801.1:c.242+8C>T
NM_001354802.1:c.113+8C>T
NM_001354803.2:c.287+8C>T
NM_033507.3:c.1256+8C>T
NM_033508.3:c.1250+8C>T
LRG_1074t1:c.1253+8C>T
LRG_1074t2:c.1256+8C>T
LRG_1074:g.57682C>T
NC_000007.13:g.44185088G>A
NM_000162.3:c.1253+8C>T

Links:

dbSNP: rs2908274

NCBI 1000 Genomes Browser:

rs2908274

Molecular consequence:

NM_000162.5:c.1253+8C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001354800.1:c.1253+8C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001354801.1:c.242+8C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001354802.1:c.113+8C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001354803.2:c.287+8C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_033507.3:c.1256+8C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_033508.3:c.1250+8C>T - intron variant - [Sequence Ontology: SO:0001627]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002506562	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Benign	somatic	research	PubMed (2) [See all records that cite these PMIDs] 33072637, 24578721 Citation Link,
SCV002677004	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Benign (Dec 8, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002506562

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)

Benign

somatic

research

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV002677004

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Benign
(Dec 8, 2014)

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
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Molecular Genetic Study in a Cohort of Iranian Families Suspected to Maturity-Onset Diabetes of the Young, Reveals a Recurrent Mutation and a High-Risk Variant in the CEL Gene.

Sarmadi A, Mohammadi A, Tabatabaei F, Nouri Z, Chaleshtori MH, Tabatabaiefar MA.

Adv Biomed Res. 2020;9:25. doi: 10.4103/abr.abr_18_20.

PubMed [citation]

PMID:: 33072637
PMCID:: PMC7532821

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

George DC, Chakraborty C, Haneef SA, Nagasundaram N, Chen L, Zhu H.

Theranostics. 2014;4(4):366-85. doi: 10.7150/thno.7473.

PubMed [citation]

PMID:: 24578721
PMCID:: PMC3936290

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002506562.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (2)

Description

GCK gene is associated with poor secretion of insulin. Associated with milder forms of diabetes, which can be controlled by diet well. The association of this particular Variant(rs2908274) with MODY is also seen.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Ambry Genetics, SCV002677004.2

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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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