NM_007194.3(CHEK2):c.499G>A (p.Gly167Arg) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Sep 13, 2017
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:: RCV000131700.9

Allele description

NM_007194.3(CHEK2):c.499G>A (p.Gly167Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_007194.3(CHEK2):c.499G>A (p.Gly167Arg)

Other names:

p.G167R:GGA>AGA

HGVS:

NC_000022.11:g.28725070C>T
NG_008150.1:g.21765G>A
NM_001257387.1:c.-279G>A
NM_007194.3:c.499G>A
NP_009125.1:p.Gly167Arg
NC_000022.10:g.29121058C>T
O96017:p.Gly167Arg
p.G167R

Protein change:

G167R

Links:

UniProtKB: O96017#VAR_019109; dbSNP: rs72552322

NCBI 1000 Genomes Browser:

rs72552322

Allele Frequency:

0.00004(T)

Molecular consequence:

NM_001257387.1:c.-279G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_007194.3:c.499G>A - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000186737	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Likely pathogenic (Jul 25, 2017)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 12533788, 22419737, 25525159, 26976419, 27153395, 12049740 Citation Link,
SCV000689693	Color	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 13, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000186737

Ambry Genetics

criteria provided, single submitter

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

Likely pathogenic
(Jul 25, 2017)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link,

SCV000689693

Color

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 13, 2017)

germline

clinical testing

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	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

Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

Roeb W, Higgins J, King MC.

Hum Mol Genet. 2012 Jun 15;21(12):2738-44. doi: 10.1093/hmg/dds101. Epub 2012 Mar 13.

PubMed [citation]

PMID:: 22419737
PMCID:: PMC3363333

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000186737.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (6)

Description

Lines of evidence used in support of classification: Deficient protein function in appropriate functional assay(s),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes),Other strong data supporting pathogenic classification

#	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

From Color, SCV000689693.1

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

#	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 25, 2018

ClinVar

Relating variation to medicine