NM_000162.5(GCK):c.786del (p.Ser263fs) AND GCK-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 3, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003893782.2

Allele description [Variation Report for NM_000162.5(GCK):c.786del (p.Ser263fs)]

NM_000162.5(GCK):c.786del (p.Ser263fs)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.786del (p.Ser263fs)

HGVS:

NC_000007.14:g.44147727del
NG_008847.2:g.55444del
NM_000162.5:c.786delMANE SELECT
NM_001354800.1:c.786del
NM_033507.3:c.789del
NM_033508.3:c.783del
NP_000153.1:p.Ser263fs
NP_001341729.1:p.Ser263fs
NP_277042.1:p.Ser264fs
NP_277043.1:p.Ser262fs
LRG_1074t1:c.786del
LRG_1074t2:c.789del
LRG_1074:g.55444del
LRG_1074p1:p.Ser263fs
LRG_1074p2:p.Ser264fs
NC_000007.13:g.44187326del
NM_000162.3:c.786delC

Protein change:

S262fs

Molecular consequence:

NM_000162.5:c.786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354800.1:c.786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033507.3:c.789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033508.3:c.783del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: GCK-related disorder
Synonyms:: GCK-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004710054	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely pathogenic (Jan 3, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004710054

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely pathogenic
(Jan 3, 2024)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004710054.2

#	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.786delC variant is predicted to result in a frameshift and premature protein termination (p.Ser263Profs*31). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in GCK are expected to be pathogenic. This variant is interpreted as likely 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: Oct 13, 2024

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