NM_000162.5(GCK):c.1153G>C (p.Gly385Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 29, 2021
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:: RCV002958450.3

Allele description [Variation Report for NM_000162.5(GCK):c.1153G>C (p.Gly385Arg)]

NM_000162.5(GCK):c.1153G>C (p.Gly385Arg)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1153G>C (p.Gly385Arg)

HGVS:

NC_000007.14:g.44145597C>G
NG_008847.2:g.57574G>C
NM_000162.5:c.1153G>CMANE SELECT
NM_001354800.1:c.1153G>C
NM_001354801.1:c.142G>C
NM_001354802.1:c.13G>C
NM_001354803.2:c.187G>C
NM_033507.3:c.1156G>C
NM_033508.3:c.1150G>C
NP_000153.1:p.Gly385Arg
NP_001341729.1:p.Gly385Arg
NP_001341730.1:p.Gly48Arg
NP_001341731.1:p.Gly5Arg
NP_001341732.1:p.Gly63Arg
NP_277042.1:p.Gly386Arg
NP_277043.1:p.Gly384Arg
LRG_1074t1:c.1153G>C
LRG_1074t2:c.1156G>C
LRG_1074:g.57574G>C
LRG_1074p1:p.Gly385Arg
LRG_1074p2:p.Gly386Arg
NC_000007.13:g.44185196C>G

Protein change:

G384R

Molecular consequence:

NM_000162.5:c.1153G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.1153G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354801.1:c.142G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354802.1:c.13G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354803.2:c.187G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.1156G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.1150G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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LOC4332319 [Oryza sativa Japonica Group]
LOC4332319 [Oryza sativa Japonica Group]
Gene ID:4332319

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003278393	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 29, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 10588527, 19790256, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003278393

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 29, 2021)

germline

clinical testing

PubMed (3)
[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

Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.

Ng MC, Cockburn BN, Lindner TH, Yeung VT, Chow CC, So WY, Li JK, Lo YM, Lee ZS, Cockram CS, Critchley JA, Bell GI, Chan JC.

Diabet Med. 1999 Nov;16(11):956-63.

PubMed [citation]

PMID:: 10588527

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL.

Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. Review.

PubMed [citation]

PMID:: 19790256

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003278393.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Gly385 amino acid residue in GCK. Other variant(s) that disrupt this residue have been observed in individuals with GCK-related conditions (PMID: 10588527), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This missense change has been observed in individual(s) with clinical features of maturity onset diabetes of the young (PMID: 19790256; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 385 of the GCK protein (p.Gly385Arg).

#	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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