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NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) AND CHEK2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 19, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004529945.2

Allele description [Variation Report for NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)]

NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)

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.980A>G (p.Tyr327Cys)
Other names:
p.Y327C:TAT>TGT
HGVS:
  • NC_000022.11:g.28699866T>C
  • NG_008150.2:g.47001A>G
  • NM_001005735.2:c.1109A>G
  • NM_001257387.2:c.317A>G
  • NM_001349956.2:c.779A>G
  • NM_007194.4:c.980A>GMANE SELECT
  • NM_145862.2:c.980A>G
  • NP_001005735.1:p.Tyr370Cys
  • NP_001244316.1:p.Tyr106Cys
  • NP_001336885.1:p.Tyr260Cys
  • NP_009125.1:p.Tyr327Cys
  • NP_665861.1:p.Tyr327Cys
  • LRG_302t1:c.980A>G
  • LRG_302:g.47001A>G
  • LRG_302p1:p.Tyr327Cys
  • NC_000022.10:g.29095854T>C
  • NG_008150.1:g.46969A>G
  • NM_007194.3:c.980A>G
  • O96017:p.Tyr327Cys
  • p.Y327C
Protein change:
Y106C
Links:
UniProtKB: O96017#VAR_019114; dbSNP: rs587780194
NCBI 1000 Genomes Browser:
rs587780194
Molecular consequence:
  • NM_001005735.2:c.1109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257387.2:c.317A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349956.2:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007194.4:c.980A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145862.2:c.980A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CHEK2-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004113251PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Feb 19, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004113251.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CHEK2 c.980A>G variant is predicted to result in the amino acid substitution p.Tyr327Cys. This variant has been reported in individuals with prostate cancer (Dong et al. 2003. PubMed ID: 12533788), breast cancer (Kleiblova et al. 2019. PubMed ID: 31050813; Table S4, Bhai et al. 2021. PubMed ID: 34326862), and in a control individual from a breast cancer study (Momozawa et al. 2018. PubMed ID: 30287823). This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD. This variant is listed in ClinVar as uncertain by several diagnostic labs (https://www.ncbi.nlm.nih.gov/clinvar/variation/128092/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024