NM_007194.4(CHEK2):c.128C>G (p.Thr43Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 23, 2020
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:: RCV002383275.2

Allele description [Variation Report for NM_007194.4(CHEK2):c.128C>G (p.Thr43Ser)]

NM_007194.4(CHEK2):c.128C>G (p.Thr43Ser)

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.128C>G (p.Thr43Ser)

HGVS:

NC_000022.11:g.28734594G>C
NG_008150.2:g.12273C>G
NM_001005735.2:c.128C>G
NM_001257387.2:c.-650C>G
NM_001349956.2:c.128C>G
NM_007194.4:c.128C>GMANE SELECT
NM_145862.2:c.128C>G
NP_001005735.1:p.Thr43Ser
NP_001336885.1:p.Thr43Ser
NP_009125.1:p.Thr43Ser
NP_665861.1:p.Thr43Ser
LRG_302t1:c.128C>G
LRG_302:g.12273C>G
LRG_302p1:p.Thr43Ser
NC_000022.10:g.29130582G>C
NM_007194.3:c.128C>G

Protein change:

T43S

Molecular consequence:

NM_001257387.2:c.-650C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001005735.2:c.128C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349956.2:c.128C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007194.4:c.128C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_145862.2:c.128C>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
SCV002691575	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 23, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002691575

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 23, 2020)

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, SCV002691575.2

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

Description

The p.T43S variant (also known as c.128C>G), located in coding exon 1 of the CHEK2 gene, results from a C to G substitution at nucleotide position 128. The threonine at codon 43 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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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