NM_000162.5(GCK):c.808CTG[1] (p.Leu271del) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 30, 2020
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:: RCV001280588.1

Allele description [Variation Report for NM_000162.5(GCK):c.808CTG[1] (p.Leu271del)]

NM_000162.5(GCK):c.808CTG[1] (p.Leu271del)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.808CTG[1] (p.Leu271del)

Other names:

NM_033508.3:c.808_810del

HGVS:

NC_000007.14:g.44147700CAG[1]
NG_008847.2:g.55466CTG[1]
NM_000162.5:c.808CTG[1]MANE SELECT
NM_001354800.1:c.808CTG[1]
NM_033507.3:c.811CTG[1]
NM_033508.3:c.805CTG[1]
NP_000153.1:p.Leu271del
NP_001341729.1:p.Leu271del
NP_277042.1:p.Leu272del
NP_277043.1:p.Leu270del
LRG_1074t1:c.808CTG[1]
LRG_1074t2:c.811CTG[1]
LRG_1074:g.55466CTG[1]
LRG_1074p1:p.Leu271del
LRG_1074p2:p.Leu272del
NC_000007.13:g.44187299CAG[1]
NC_000007.14:g.44147703_44147705del
NM_000162.3:c.811_813delCTG

Protein change:

L270del

Links:

dbSNP: rs2096275478

NCBI 1000 Genomes Browser:

rs2096275478

Molecular consequence:

NM_000162.5:c.808CTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354800.1:c.808CTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_033507.3:c.811CTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_033508.3:c.805CTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Protea scolymocephala partial ncpGS gene for glutamine synthase, exons 1-5
Protea scolymocephala partial ncpGS gene for glutamine synthase, exons 1-5
gi|56711085|emb|AJ699501.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001467797	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Dec 30, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001467797

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Dec 30, 2020)

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001467797.1

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

Description

Variant summary: GCK c.811_813delCTG (p.Leu271del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein that is located in Hexokinase, C-terminal domain (IPR022673) of the encoded protein sequence. The variant was absent in 250518 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.811_813delCTG in individuals affected with Maturity Onset Diabetes of the Young 2/Neonatal Diabetes Mellitus and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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: Jan 26, 2024

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