NM_007194.4(CHEK2):c.133del (p.Thr45fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 26, 2016
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:: RCV000572454.4

Allele description [Variation Report for NM_007194.4(CHEK2):c.133del (p.Thr45fs)]

NM_007194.4(CHEK2):c.133del (p.Thr45fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_007194.4(CHEK2):c.133del (p.Thr45fs)

HGVS:

NC_000022.11:g.28734589del
NG_008150.2:g.12278del
NM_001005735.2:c.133del
NM_001257387.2:c.-645del
NM_001349956.2:c.133del
NM_007194.4:c.133delMANE SELECT
NM_145862.2:c.133del
NP_001005735.1:p.Thr45fs
NP_001336885.1:p.Thr45fs
NP_009125.1:p.Thr45fs
NP_665861.1:p.Thr45fs
LRG_302t1:c.133del
LRG_302:g.12278del
LRG_302p1:p.Thr45fs
NC_000022.10:g.29130577del
NG_008150.1:g.12246del
NM_007194.3:c.133delA

Protein change:

T45fs

Links:

dbSNP: rs1555932518

NCBI 1000 Genomes Browser:

rs1555932518

Molecular consequence:

NM_001257387.2:c.-645del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001005735.2:c.133del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349956.2:c.133del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007194.4:c.133del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_145862.2:c.133del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000661740	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Apr 26, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000661740

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Apr 26, 2016)

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 Ambry Genetics, SCV000661740.5

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

Description

The c.133delA pathogenic mutation, located in coding exon 1 of the CHEK2 gene, results from a deletion of one nucleotide at nucleotide position 133, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#	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 1, 2024

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