NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 12, 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:: RCV001753661.3

Allele description [Variation Report for NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del)]

NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del)

Gene:

CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del)

HGVS:

NC_000022.11:g.28734640_28734672del
NG_008150.2:g.12197_12229del
NM_001005735.2:c.52_84del
NM_001257387.2:c.-726_-694del
NM_001349956.2:c.52_84del
NM_007194.4:c.52_84delMANE SELECT
NM_145862.2:c.52_84del
NP_001005735.1:p.Cys18_Ser28del
NP_001336885.1:p.Cys18_Ser28del
NP_009125.1:p.Cys18_Ser28del
NP_665861.1:p.Cys18_Ser28del
LRG_302t1:c.52_84del
LRG_302:g.12197_12229del
LRG_302p1:p.Cys18_Ser28del
NC_000022.10:g.29130626_29130658del
NC_000022.10:g.29130628_29130660del
NG_008150.1:g.12165_12197del
NM_007194.3:c.52_84del
NM_007194.3:c.52_84del33

Links:

dbSNP: rs876658857

NCBI 1000 Genomes Browser:

rs876658857

Molecular consequence:

NM_001257387.2:c.-726_-694del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001005735.2:c.52_84del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001349956.2:c.52_84del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007194.4:c.52_84del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_145862.2:c.52_84del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002006284	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 12, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002006284

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 12, 2021)

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

Details of each submission

From GeneDx, SCV002006284.2

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

Description

Not observed at a significant frequency in large population cohorts (Lek 2016); In-frame deletion of 11 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function

#	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

Last Updated: Sep 29, 2024

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