NM_000162.5(GCK):c.1350_1361del (p.Leu451_Ala454del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 2, 2018
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:: RCV000992047.2

Allele description [Variation Report for NM_000162.5(GCK):c.1350_1361del (p.Leu451_Ala454del)]

NM_000162.5(GCK):c.1350_1361del (p.Leu451_Ala454del)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1350_1361del (p.Leu451_Ala454del)

HGVS:

NC_000007.14:g.44145177_44145188del
NG_008847.2:g.57987_57998del
NM_000162.5:c.1350_1361delMANE SELECT
NM_001354800.1:c.1350_1361del
NM_001354801.1:c.339_350del
NM_001354802.1:c.210_221del
NM_001354803.2:c.384_395del
NM_033507.3:c.1353_1364del
NM_033508.3:c.1347_1358del
NP_000153.1:p.Leu451_Ala454del
NP_001341729.1:p.Leu451_Ala454del
NP_001341730.1:p.Leu114_Ala117del
NP_001341731.1:p.Leu71_Ala74del
NP_001341732.1:p.Leu129_Ala132del
NP_277042.1:p.Leu452_Ala455del
NP_277043.1:p.Leu450_Ala453del
LRG_1074t1:c.1350_1361del
LRG_1074t2:c.1353_1364del
LRG_1074:g.57987_57998del
LRG_1074p1:p.Leu451_Ala454del
LRG_1074p2:p.Leu452_Ala455del
NC_000007.13:g.44184776_44184787del
NM_000162.3:c.1350_1361del

Links:

dbSNP: rs1583590383

NCBI 1000 Genomes Browser:

rs1583590383

Molecular consequence:

NM_000162.5:c.1350_1361del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354800.1:c.1350_1361del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354801.1:c.339_350del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354802.1:c.210_221del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354803.2:c.384_395del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_033507.3:c.1353_1364del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_033508.3:c.1347_1358del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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RecName: Full=Small conductance calcium-activated potassium channel protein 3; S...
RecName: Full=Small conductance calcium-activated potassium channel protein 3; Short=SK3; Short=SKCa 3; Short=SKCa3; AltName: Full=KCa2.3
gi|17367120|sp|Q9UGI6.1|KCNN3_HUMAN

Protein
Rattus norvegicus branched chain aminotransferase 1, cytosolic, mRNA (cDNA clone...
Rattus norvegicus branched chain aminotransferase 1, cytosolic, mRNA (cDNA clone MGC:105472 IMAGE:7315507), complete cds
gi|56388581|gb|BC087710.1|

Nucleotide
rt [Acyrthosiphon pisum]
rt [Acyrthosiphon pisum]
Gene ID:100164627

Gene
VNN1 [Microcaecilia unicolor]
VNN1 [Microcaecilia unicolor]
Gene ID:115466895

Gene
Gtsf2 gametocyte specific factor 2 [Mus musculus]
Gtsf2 gametocyte specific factor 2 [Mus musculus]
Gene ID:223927

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001144011	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Nov 2, 2018)	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

SCV001144011

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Nov 2, 2018)

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

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Athena Diagnostics, SCV001144011.1

#	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

Last Updated: May 7, 2024

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