NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) AND not provided

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Jul 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000759042.34

Allele description [Variation Report for NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)]

NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)

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.1343T>G (p.Ile448Ser)

Other names:

p.I448S:ATT>AGT

HGVS:

NC_000022.11:g.28695159A>C
NG_008150.2:g.51708T>G
NM_001005735.2:c.1472T>G
NM_001257387.2:c.680T>G
NM_001349956.2:c.1142T>G
NM_007194.4:c.1343T>GMANE SELECT
NM_145862.2:c.1256T>G
NP_001005735.1:p.Ile491Ser
NP_001244316.1:p.Ile227Ser
NP_001336885.1:p.Ile381Ser
NP_009125.1:p.Ile448Ser
NP_665861.1:p.Ile419Ser
LRG_302t1:c.1343T>G
LRG_302:g.51708T>G
LRG_302p1:p.Ile448Ser
NC_000022.10:g.29091147A>C
NG_008150.1:g.51676T>G
NM_001005735.1:c.1472T>G
NM_007194.3:c.1343T>G
O96017:p.Ile448Ser
p.I448S

Protein change:

I227S

Links:

UniProtKB: O96017#VAR_021120; dbSNP: rs17886163

NCBI 1000 Genomes Browser:

rs17886163

Molecular consequence:

NM_001005735.2:c.1472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001257387.2:c.680T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349956.2:c.1142T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007194.4:c.1343T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_145862.2:c.1256T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000167691	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Nov 30, 2018)	germline	clinical testing	Citation Link,
SCV000888103	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (Sep 1, 2022)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 27978560, 26976419, 24728327, 30851065, 33471991, 27595995, 21244692, 25980754, 26467025
SCV000892300	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Jul 1, 2024)	germline	clinical testing	Citation Link,
SCV005210263	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing, not provided
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, Goldberg RM, Paskett E, Shields PG, Freudenheim JL, Stanich PP, Lattimer I, Arnold M, Liyanarachchi S, Kalady M, Heald B, Greenwood C, Paquette I, et al.

JAMA Oncol. 2017 Apr 1;3(4):464-471. doi: 10.1001/jamaoncol.2016.5194.

PubMed [citation]

PMID:: 27978560
PMCID:: PMC5564179

Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE.

J Clin Oncol. 2016 May 1;34(13):1460-8. doi: 10.1200/JCO.2015.65.0747. Epub 2016 Mar 14.

PubMed [citation]

PMID:: 26976419
PMCID:: PMC4872307

See all PubMed Citations (10)

Details of each submission

From GeneDx, SCV000167691.11

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

Description

This variant is associated with the following publications: (PMID: 24728327, 27595995, 21244692, 26976419, 30851065)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888103.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV000892300.28

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

CHEK2: BP4, BS1, BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005210263.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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