NM_000162.5(GCK):c.1186_1187dup (p.Ser396fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 5, 2022
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:: RCV002604226.3

Allele description [Variation Report for NM_000162.5(GCK):c.1186_1187dup (p.Ser396fs)]

NM_000162.5(GCK):c.1186_1187dup (p.Ser396fs)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1186_1187dup (p.Ser396fs)

HGVS:

NC_000007.14:g.44145564TC[3]
NG_008847.2:g.57605AG[3]
NM_000162.3:c.1186_1187dupAG
NM_000162.5:c.1186_1187dupMANE SELECT
NM_001354800.1:c.1186_1187dup
NM_001354801.1:c.175_176dup
NM_001354802.1:c.46_47dup
NM_001354803.2:c.220_221dup
NM_033507.3:c.1189_1190dup
NM_033508.3:c.1183_1184dup
NP_000153.1:p.Ser396fs
NP_001341729.1:p.Ser396fs
NP_001341730.1:p.Ser59fs
NP_001341731.1:p.Ser16fs
NP_001341732.1:p.Ser74fs
NP_277042.1:p.Ser397fs
NP_277043.1:p.Ser395fs
LRG_1074t1:c.1186_1187dup
LRG_1074t2:c.1189_1190dup
LRG_1074:g.57605AG[3]
LRG_1074p1:p.Ser396fs
LRG_1074p2:p.Ser397fs
NC_000007.13:g.44185161_44185162insCT
NC_000007.13:g.44185163TC[3]

Protein change:

S16fs

Molecular consequence:

NM_000162.5:c.1186_1187dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354800.1:c.1186_1187dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354801.1:c.175_176dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354802.1:c.46_47dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354803.2:c.220_221dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033507.3:c.1189_1190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033508.3:c.1183_1184dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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hypothetical protein Ycf1, partial [Rhipidoglossum kamerunense]
hypothetical protein Ycf1, partial [Rhipidoglossum kamerunense]
gi|1369210350|gb|AVP80857.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002950193	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 5, 2022)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 7553875, 9867845, 14578306, 24323243, 25015100, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002950193

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 5, 2022)

germline

clinical testing

PubMed (6)
[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 (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002950193.2

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GCK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser396Argfs*7) 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).

#	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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