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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

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Assertion and evidence details

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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

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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