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NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) AND Breast and colorectal cancer, susceptibility to

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 20, 2015
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:
RCV000210071.1

Allele description

NM_007194.4(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_007194.4(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
  • NG_008150.2:g.21797G>A
  • NM_001005735.2:c.628G>A
  • NM_001257387.2:c.-279G>A
  • NM_001349956.2:c.445-147G>A
  • NM_007194.4:c.499G>AMANE SELECT
  • NM_145862.2:c.499G>A
  • NP_001005735.1:p.Gly210Arg
  • NP_009125.1:p.Gly167Arg
  • NP_665861.1:p.Gly167Arg
  • LRG_302t1:c.499G>A
  • LRG_302:g.21797G>A
  • LRG_302p1:p.Gly167Arg
  • NC_000022.10:g.29121058C>T
  • NM_001005735.1:c.628G>A
  • NM_007194.3:c.499G>A
  • O96017:p.Gly167Arg
  • p.G167R
Protein change:
G167R
Links:
UniProtKB: O96017#VAR_019109; dbSNP: rs72552322
NCBI 1000 Genomes Browser:
rs72552322
Molecular consequence:
  • NM_001257387.2:c.-279G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001349956.2:c.445-147G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001005735.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007194.4:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145862.2:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Breast and colorectal cancer, susceptibility to
Synonyms:
HBCC, susceptibility to
Identifiers:
MedGen: CN068920

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000266066University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Shirts et al. (Genet Med 2016))		Likely pathogenic
(Nov 20, 2015) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineno1not providednot provided1not providedclinical testing

Citations

PubMed

Improving performance of multigene panels for genomic analysis of cancer predisposition.

Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC.

Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4.

PubMed [citation]
PMID:
26845104

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV000266066.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineno1not providednot provided1not providednot providednot provided

Last Updated: Jan 8, 2022