NM_000162.5(GCK):c.183C>A (p.Tyr61Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 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:: RCV002549692.2

Allele description [Variation Report for NM_000162.5(GCK):c.183C>A (p.Tyr61Ter)]

NM_000162.5(GCK):c.183C>A (p.Tyr61Ter)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.183C>A (p.Tyr61Ter)

HGVS:

NC_000007.14:g.44153326G>T
NG_008847.2:g.49845C>A
NM_000162.5:c.183C>AMANE SELECT
NM_001354800.1:c.183C>A
NM_033507.3:c.186C>A
NM_033508.3:c.180C>A
NP_000153.1:p.Tyr61Ter
NP_001341729.1:p.Tyr61Ter
NP_277042.1:p.Tyr62Ter
NP_277043.1:p.Tyr60Ter
LRG_1074t1:c.183C>A
LRG_1074t2:c.186C>A
LRG_1074:g.49845C>A
LRG_1074p1:p.Tyr61Ter
LRG_1074p2:p.Tyr62Ter
NC_000007.13:g.44192925G>T
NM_000162.3:c.183C>A

Protein change:

Y60*

Links:

dbSNP: rs780612692

NCBI 1000 Genomes Browser:

rs780612692

Molecular consequence:

NM_000162.5:c.183C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354800.1:c.183C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_033507.3:c.186C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_033508.3:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV003439956	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 1, 2023)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 7553875, 9867845, 14578306, 24323243, 25015100, 17573900, 18298419, 23009393, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003439956

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 1, 2023)

germline

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

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

Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis.

Grupe A, Hultgren B, Ryan A, Ma YH, Bauer M, Stewart TA.

Cell. 1995 Oct 6;83(1):69-78.

PubMed [citation]

PMID:: 7553875

Dual roles for glucokinase in glucose homeostasis as determined by liver and pancreatic beta cell-specific gene knock-outs using Cre recombinase.

Postic C, Shiota M, Niswender KD, Jetton TL, Chen Y, Moates JM, Shelton KD, Lindner J, Cherrington AD, Magnuson MA.

J Biol Chem. 1999 Jan 1;274(1):305-15.

PubMed [citation]

PMID:: 9867845

See all PubMed Citations (9)

Details of each submission

From Invitae, SCV003439956.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

Description

This sequence change creates a premature translational stop signal (p.Tyr61*) in the GCK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GCK are known to be pathogenic (PMID: 7553875, 9867845, 14578306, 24323243, 25015100). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal dominant maturity onset diabetes of the young or autosomal recessive permanent neonatal diabetes (PMID: 17573900, 18298419, 23009393). ClinVar contains an entry for this variant (Variation ID: 802309). For these reasons, this variant has been classified as Pathogenic.

#	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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