NM_000162.5(GCK):c.1111T>G (p.Cys371Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 23, 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:: RCV002933238.3

Allele description [Variation Report for NM_000162.5(GCK):c.1111T>G (p.Cys371Gly)]

NM_000162.5(GCK):c.1111T>G (p.Cys371Gly)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1111T>G (p.Cys371Gly)

HGVS:

NC_000007.14:g.44145639A>C
NG_008847.2:g.57532T>G
NM_000162.5:c.1111T>GMANE SELECT
NM_001354800.1:c.1111T>G
NM_001354801.1:c.100T>G
NM_001354802.1:c.-30T>G
NM_001354803.2:c.145T>G
NM_033507.3:c.1114T>G
NM_033508.3:c.1108T>G
NP_000153.1:p.Cys371Gly
NP_001341729.1:p.Cys371Gly
NP_001341730.1:p.Cys34Gly
NP_001341732.1:p.Cys49Gly
NP_277042.1:p.Cys372Gly
NP_277043.1:p.Cys370Gly
LRG_1074t1:c.1111T>G
LRG_1074t2:c.1114T>G
LRG_1074:g.57532T>G
LRG_1074p1:p.Cys371Gly
LRG_1074p2:p.Cys372Gly
NC_000007.13:g.44185238A>C

Protein change:

C34G

Molecular consequence:

NM_001354802.1:c.-30T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000162.5:c.1111T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.1111T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354801.1:c.100T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354803.2:c.145T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.1114T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.1108T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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death-associated protein 3 [Mus musculus]
death-associated protein 3 [Mus musculus]
gi|12667808|ref|NP_075370.1|

Protein
Polyxenus fasciculatus voucher Pol2DIPLO gelsolin mRNA, partial cds
Polyxenus fasciculatus voucher Pol2DIPLO gelsolin mRNA, partial cds
gi|262305242|gb|GQ887641.1|

Nucleotide
Phenylobacterium composti strain R45-2 16S ribosomal RNA gene, partial sequence
Phenylobacterium composti strain R45-2 16S ribosomal RNA gene, partial sequence
gi|1722504901|gb|MK425654.1|

Nucleotide
Mazosia carnea [Supplementary Concept]
Mazosia carnea [Supplementary Concept]
Date introduced: October 1, 2020<br/>

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003264761	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 23, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003264761

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 23, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003264761.2

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

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. 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 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 replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 371 of the GCK protein (p.Cys371Gly).

#	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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