NM_000162.5(GCK):c.895G>C (p.Gly299Arg) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 27, 2019
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:: RCV001288185.2

Allele description [Variation Report for NM_000162.5(GCK):c.895G>C (p.Gly299Arg)]

NM_000162.5(GCK):c.895G>C (p.Gly299Arg)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.895G>C (p.Gly299Arg)

HGVS:

NC_000007.14:g.44146587C>G
NG_008847.2:g.56584G>C
NM_000162.5:c.895G>CMANE SELECT
NM_001354800.1:c.895G>C
NM_001354801.1:c.8+32G>C
NM_033507.3:c.898G>C
NM_033508.3:c.892G>C
NP_000153.1:p.Gly299Arg
NP_001341729.1:p.Gly299Arg
NP_277042.1:p.Gly300Arg
NP_277043.1:p.Gly298Arg
LRG_1074t1:c.895G>C
LRG_1074t2:c.898G>C
LRG_1074:g.56584G>C
LRG_1074p1:p.Gly299Arg
LRG_1074p2:p.Gly300Arg
NC_000007.13:g.44186186C>G
NM_000162.3:c.895G>C
P35557:p.Gly299Arg

Protein change:

G298R; GLY299ARG

Links:

UniProtKB: P35557#VAR_003710; OMIM: 138079.0005; dbSNP: rs104894009

NCBI 1000 Genomes Browser:

rs104894009

Molecular consequence:

NM_001354801.1:c.8+32G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000162.5:c.895G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.895G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.898G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.892G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001475132	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Nov 27, 2019)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 14517956, 22060211, 21348868, 20458967, 25082184, 1303265, 8446612, 8932999, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001475132

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Nov 27, 2019)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Thomson KL, Gloyn AL, Colclough K, Batten M, Allen LI, Beards F, Hattersley AT, Ellard S.

Hum Mutat. 2003 Nov;22(5):417.

PubMed [citation]

PMID:: 14517956

Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.

Yorifuji T, Fujimaru R, Hosokawa Y, Tamagawa N, Shiozaki M, Aizu K, Jinno K, Maruo Y, Nagasaka H, Tajima T, Kobayashi K, Urakami T.

Pediatr Diabetes. 2012 Feb;13(1):26-32. doi: 10.1111/j.1399-5448.2011.00827.x. Epub 2011 Nov 8. Erratum in: Pediatr Diabetes. 2013 May;14(3):230.

PubMed [citation]

PMID:: 22060211

See all PubMed Citations (9)

Details of each submission

From Athena Diagnostics, SCV001475132.1

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

Description

Not found in the total gnomAD dataset, and the data is high quality. Predicted to have a damaging effect on the protein. Found in multiple individuals with expected phenotype for this gene. Assessment of experimental evidence suggests this variant results in abnormal protein function. Very strong co-segregation with disease, and data include affected and unaffected individuals from multiple families.

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

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine