NM_007194.4(CHEK2):c.77C>T (p.Thr26Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 16, 2022
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:: RCV002409899.2

Allele description [Variation Report for NM_007194.4(CHEK2):c.77C>T (p.Thr26Ile)]

NM_007194.4(CHEK2):c.77C>T (p.Thr26Ile)

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.77C>T (p.Thr26Ile)

HGVS:

NC_000022.11:g.28734645G>A
NG_008150.2:g.12222C>T
NM_001005735.2:c.77C>T
NM_001257387.2:c.-701C>T
NM_001349956.2:c.77C>T
NM_007194.4:c.77C>TMANE SELECT
NM_145862.2:c.77C>T
NP_001005735.1:p.Thr26Ile
NP_001336885.1:p.Thr26Ile
NP_009125.1:p.Thr26Ile
NP_665861.1:p.Thr26Ile
LRG_302t1:c.77C>T
LRG_302:g.12222C>T
LRG_302p1:p.Thr26Ile
NC_000022.10:g.29130633G>A
NM_007194.3:c.77C>T

Protein change:

T26I

Molecular consequence:

NM_001257387.2:c.-701C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001005735.2:c.77C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001349956.2:c.77C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007194.4:c.77C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_145862.2:c.77C>T - 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
SCV002669141	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 16, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002669141

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 16, 2022)

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, SCV002669141.2

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

Description

The p.T26I variant (also known as c.77C>T), located in coding exon 1 of the CHEK2 gene, results from a C to T substitution at nucleotide position 77. The threonine at codon 26 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is poorly 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: Sep 29, 2024

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