NM_007194.4(CHEK2):c.1093A>G (p.Lys365Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 30, 2015
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:: RCV000218891.4

Allele description [Variation Report for NM_007194.4(CHEK2):c.1093A>G (p.Lys365Glu)]

NM_007194.4(CHEK2):c.1093A>G (p.Lys365Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_007194.4(CHEK2):c.1093A>G (p.Lys365Glu)

HGVS:

NC_000022.11:g.28696903T>C
NG_008150.2:g.49964A>G
NM_001005735.2:c.1222A>G
NM_001257387.2:c.430A>G
NM_001349956.2:c.892A>G
NM_007194.4:c.1093A>GMANE SELECT
NM_145862.2:c.1009-1030A>G
NP_001005735.1:p.Lys408Glu
NP_001244316.1:p.Lys144Glu
NP_001336885.1:p.Lys298Glu
NP_009125.1:p.Lys365Glu
LRG_302t1:c.1093A>G
LRG_302:g.49964A>G
LRG_302p1:p.Lys365Glu
NC_000022.10:g.29092891T>C
NG_008150.1:g.49932A>G
NM_007194.3:c.1093A>G

Protein change:

K144E

Links:

dbSNP: rs876659921

NCBI 1000 Genomes Browser:

rs876659921

Molecular consequence:

NM_145862.2:c.1009-1030A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001005735.2:c.1222A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001257387.2:c.430A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349956.2:c.892A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007194.4:c.1093A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000276877	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 30, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000276877

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 30, 2015)

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, SCV000276877.7

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

Description

The p.K365E variant (also known as c.1093A>G), located in coding exon 9 of the CHEK2 gene, results from an A to G substitution at nucleotide position 1093. The lysine at codon 365 is replaced by glutamic acid, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 72000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of p.K365E remains unclear.

#	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: Sep 29, 2024

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