NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) AND Hereditary cancer-predisposing syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 21, 2017
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:: RCV000164479.3

Allele description

NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)

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.541C>T (p.Arg181Cys)

HGVS:

NC_000022.11:g.28725028G>A
NG_008150.2:g.21839C>T
NM_001257387.1:c.-237C>T
NM_001349956.1:c.445-105C>T
NM_007194.4:c.541C>T
NP_009125.1:p.Arg181Cys
NC_000022.10:g.29121016G>A
NG_008150.1:g.21807C>T
NM_007194.3:c.541C>T
O96017:p.Arg181Cys
p.R181C

Protein change:

R181C; ARG181CYS

Links:

UniProtKB: O96017#VAR_019104; OMIM: 604373.0008; dbSNP: rs137853010

Molecular consequence:

NM_001257387.1:c.-237C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001349956.1:c.445-105C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007194.4:c.541C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000215126	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Uncertain significance (Jul 21, 2017)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 12533788, 16835864, 22419737, 18058223, 18996005, 19782031, 21765476 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000215126

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Uncertain significance
(Jul 21, 2017)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Mutations in CHEK2 associated with prostate cancer risk.

Dong X, Wang L, Taniguchi K, Wang X, Cunningham JM, McDonnell SK, Qian C, Marks AF, Slager SL, Peterson BJ, Smith DI, Cheville JC, Blute ML, Jacobsen SJ, Schaid DJ, Tindall DJ, Thibodeau SN, Liu W.

Am J Hum Genet. 2003 Feb;72(2):270-80. Epub 2003 Jan 17.

PubMed [citation]

PMID:: 12533788
PMCID:: PMC379222

Characterization of CHEK2 mutations in prostate cancer.

Wu X, Dong X, Liu W, Chen J.

Hum Mutat. 2006 Aug;27(8):742-7.

PubMed [citation]

PMID:: 16835864

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000215126.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (7)

Description

Lines of evidence used in support of classification: Insufficient or conflicting evidence

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

Last Updated: Apr 19, 2019

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