NM_007194.4(CHEK2):c.444+2T>C AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 8, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000483398.2

Allele description [Variation Report for NM_007194.4(CHEK2):c.444+2T>C]

NM_007194.4(CHEK2):c.444+2T>C

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.444+2T>C
HGVS:
  • NC_000022.11:g.28725241A>G
  • NG_008150.1:g.21594T>C
  • NG_008150.2:g.21626T>C
  • NM_001005735.2:c.573+2T>C
  • NM_001257387.2:c.-334+2T>C
  • NM_001349956.2:c.444+2T>C
  • NM_007194.4:c.444+2T>CMANE SELECT
  • NM_145862.2:c.444+2T>C
  • LRG_302t1:c.444+2T>C
  • LRG_302:g.21626T>C
  • NC_000022.10:g.29121229A>G
  • NM_007194.3:c.444+2T>C
Links:
dbSNP: rs560596101
NCBI 1000 Genomes Browser:
rs560596101
Molecular consequence:
  • NM_001005735.2:c.573+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001257387.2:c.-334+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349956.2:c.444+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007194.4:c.444+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_145862.2:c.444+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000572152GeneDxcriteria provided, single submitter
Pathogenic
(Nov 8, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000572152.5

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

Description

Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; Also known as c.573+2T>C or IVS2+2T>C

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

Last Updated: Sep 24, 2021

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