NM_000162.5(GCK):c.600G>A (p.Val200=) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Jun 28, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002226133.4

Allele description

NM_000162.5(GCK):c.600G>A (p.Val200=)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.600G>A (p.Val200=)

HGVS:

NC_000007.14:g.44149839C>T
NG_008847.2:g.53332G>A
NM_000162.5:c.600G>AMANE SELECT
NM_001354800.1:c.600G>A
NM_033507.3:c.603G>A
NM_033508.3:c.597G>A
NP_000153.1:p.Val200=
NP_001341729.1:p.Val200=
NP_277042.1:p.Val201=
NP_277043.1:p.Val199=
LRG_1074t1:c.600G>A
LRG_1074t2:c.603G>A
LRG_1074:g.53332G>A
LRG_1074p1:p.Val200=
LRG_1074p2:p.Val201=
NC_000007.13:g.44189438C>T
NM_000162.3:c.600G>A

Links:

dbSNP: rs773561406

NCBI 1000 Genomes Browser:

rs773561406

Molecular consequence:

NM_000162.5:c.600G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354800.1:c.600G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_033507.3:c.603G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_033508.3:c.597G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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probable galacturonosyltransferase 6 isoform X3 [Vitis vinifera]
probable galacturonosyltransferase 6 isoform X3 [Vitis vinifera]
gi|731394739|ref|XP_010651938.1|

Protein
tryptophan synthase subunit alpha [Chlamydia trachomatis]
tryptophan synthase subunit alpha [Chlamydia trachomatis]
gi|497558878|ref|WP_009873062.1|

Protein
class I adenylate cyclase [Pseudomonas putida]
class I adenylate cyclase [Pseudomonas putida]
gi|501269179|ref|WP_012312197.1|

Protein
MULTISPECIES: amino acid ABC transporter ATP-binding protein [Neisseria]
MULTISPECIES: amino acid ABC transporter ATP-binding protein [Neisseria]
gi|489846217|ref|WP_003749909.1|

Protein
chloride channel protein [Caldisphaera lagunensis]
chloride channel protein [Caldisphaera lagunensis]
gi|505044849|ref|WP_015231951.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002504514	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Apr 29, 2019)	germline	clinical testing	Citation Link,
SCV003453667	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Apr 14, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004564194	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Likely benign (Jun 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002504514

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Apr 29, 2019)

germline

clinical testing

Citation Link,

SCV003453667

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Apr 14, 2023)

germline

clinical testing

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

SCV004564194

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Likely benign
(Jun 28, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
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 GeneDx, SCV002504514.2

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

Description

See Variant Classification Assertion Criteria.

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

From Invitae, SCV003453667.2

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

#	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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004564194.1

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

#	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: May 19, 2024

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