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NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 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:
RCV000522849.2

Allele description [Variation Report for NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)]

NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)

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.232C>T (p.Gln78Ter)
HGVS:
  • NC_000022.11:g.28734490G>A
  • NG_008150.2:g.12377C>T
  • NM_001005735.2:c.232C>T
  • NM_001257387.2:c.-546C>T
  • NM_001349956.2:c.232C>T
  • NM_007194.4:c.232C>TMANE SELECT
  • NM_145862.2:c.232C>T
  • NP_001005735.1:p.Gln78Ter
  • NP_001336885.1:p.Gln78Ter
  • NP_009125.1:p.Gln78Ter
  • NP_665861.1:p.Gln78Ter
  • LRG_302t1:c.232C>T
  • LRG_302:g.12377C>T
  • LRG_302p1:p.Gln78Ter
  • NC_000022.10:g.29130478G>A
  • NG_008150.1:g.12345C>T
  • NM_007194.3:c.232C>T
Protein change:
Q78*
Links:
dbSNP: rs1555932341
NCBI 1000 Genomes Browser:
rs1555932341
Molecular consequence:
  • NM_001257387.2:c.-546C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001005735.2:c.232C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001349956.2:c.232C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007194.4:c.232C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_145862.2:c.232C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000621093GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Sep 21, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000621093.2

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

Description

This apparently mosaic likely pathogenic variant is denoted CHEK2 c.232C>T at the cDNA level andp.Gln78Ter (Q78X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to apremature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either proteintruncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in theliterature, it is considered likely pathogenic.

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

Last Updated: Sep 29, 2024