NM_000162.5(GCK):c.1019+18G>A AND not provided

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Jan 15, 2024
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:: RCV000711755.19

Allele description [Variation Report for NM_000162.5(GCK):c.1019+18G>A]

NM_000162.5(GCK):c.1019+18G>A

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1019+18G>A

HGVS:

NC_000007.14:g.44146445C>T
NG_008847.2:g.56726G>A
NM_000162.5:c.1019+18G>AMANE SELECT
NM_001354800.1:c.1019+18G>A
NM_001354801.1:c.8+174G>A
NM_033507.3:c.1022+18G>A
NM_033508.3:c.1016+18G>A
LRG_1074t1:c.1019+18G>A
LRG_1074t2:c.1022+18G>A
LRG_1074:g.56726G>A
NC_000007.13:g.44186044C>T
NM_000162.3:c.1019+18G>A
NM_000162.5:c.1019+18G>A

Links:

dbSNP: rs150914617

NCBI 1000 Genomes Browser:

rs150914617

Molecular consequence:

NM_000162.5:c.1019+18G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354800.1:c.1019+18G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354801.1:c.8+174G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_033507.3:c.1022+18G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_033508.3:c.1016+18G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

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
SCV000842149	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Aug 31, 2017)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 10447526, 14517946, 15928245, 18271687, 19515026, 26467025
SCV002404503	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 15, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004156831	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jun 1, 2022)	germline	clinical testing	Citation Link,
SCV005227293	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	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	1	not provided	not provided	not provided	not provided	clinical testing, not provided
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes.

Lehto M, Wipemo C, Ivarsson SA, Lindgren C, Lipsanen-Nyman M, Weng J, Wibell L, Widén E, Tuomi T, Groop L.

Diabetologia. 1999 Sep;42(9):1131-7.

PubMed [citation]

PMID:: 10447526

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Gloyn AL.

Hum Mutat. 2003 Nov;22(5):353-62. Review.

PubMed [citation]

PMID:: 14517946

See all PubMed Citations (8)

Details of each submission

From Athena Diagnostics, SCV000842149.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

#	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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002404503.3

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV004156831.8

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

Description

GCK: BP4

#	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		1	not provided	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005227293.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	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: Sep 29, 2024

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