NM_007194.4(CHEK2):c.568_569delinsAA (p.Ala190Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 29, 2019
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:: RCV001024404.3

Allele description [Variation Report for NM_007194.4(CHEK2):c.568_569delinsAA (p.Ala190Lys)]

NM_007194.4(CHEK2):c.568_569delinsAA (p.Ala190Lys)

Gene:

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

Variant type:

Indel

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_007194.4(CHEK2):c.568_569delinsAA (p.Ala190Lys)

HGVS:

NC_000022.11:g.28725000_28725001delinsTT
NG_008150.2:g.21866_21867delinsAA
NM_001005735.2:c.697_698delinsAA
NM_001257387.2:c.-210_-209delinsAA
NM_001349956.2:c.445-78_445-77delinsAA
NM_007194.4:c.568_569delinsAAMANE SELECT
NM_145862.2:c.568_569delinsAA
NP_001005735.1:p.Ala233Lys
NP_009125.1:p.Ala190Lys
NP_665861.1:p.Ala190Lys
LRG_302t1:c.568_569delinsAA
LRG_302:g.21866_21867delinsAA
LRG_302p1:p.Ala190Lys
NC_000022.10:g.29120988_29120989delinsTT
NG_008150.1:g.21834_21835delinsAA
NM_007194.3:c.568_569delGCinsAA

Protein change:

A190K

Links:

dbSNP: rs1601823008

NCBI 1000 Genomes Browser:

rs1601823008

Molecular consequence:

NM_001257387.2:c.-210_-209delinsAA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001349956.2:c.445-78_445-77delinsAA - intron variant - [Sequence Ontology: SO:0001627]
NM_001005735.2:c.697_698delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_007194.4:c.568_569delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_145862.2:c.568_569delinsAA - 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
SCV001186415	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 29, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001186415

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 29, 2019)

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, SCV001186415.4

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

Description

The c.568_569delGCinsAA variant (also known as p.A190K), located in coding exon 3 of the CHEK2 gene, results from an in-frame deletion of GC and insertion of AA at nucleotide positions 568 to 569. This results in the substitution of the alanine residue for a lysine residue at codon 190, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration 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: May 1, 2024

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