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NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu) AND Hereditary cancer

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000509464.1

Allele description [Variation Report for NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu)]

NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu)

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.79C>G (p.Gln27Glu)
HGVS:
  • NC_000022.11:g.28734643G>C
  • NG_008150.2:g.12224C>G
  • NM_001005735.2:c.79C>G
  • NM_001257387.2:c.-699C>G
  • NM_001349956.2:c.79C>G
  • NM_007194.4:c.79C>GMANE SELECT
  • NM_145862.2:c.79C>G
  • NP_001005735.1:p.Gln27Glu
  • NP_001336885.1:p.Gln27Glu
  • NP_009125.1:p.Gln27Glu
  • NP_665861.1:p.Gln27Glu
  • LRG_302t1:c.79C>G
  • LRG_302:g.12224C>G
  • LRG_302p1:p.Gln27Glu
  • NC_000022.10:g.29130631G>C
  • NG_008150.1:g.12192C>G
  • NM_007194.3:c.79C>G
Protein change:
Q27E
Links:
dbSNP: rs376736188
NCBI 1000 Genomes Browser:
rs376736188
Molecular consequence:
  • NM_001257387.2:c.-699C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001005735.2:c.79C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349956.2:c.79C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007194.4:c.79C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145862.2:c.79C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer
Identifiers:
MedGen: C1333600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607209GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasians MedGen:C0043157unknownyesnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607209.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasians MedGen:C0043157not providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Oct 26, 2024