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NM_007194.4(CHEK2):c.846+4_846+7del AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2019
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:
RCV001171463.5

Allele description [Variation Report for NM_007194.4(CHEK2):c.846+4_846+7del]

NM_007194.4(CHEK2):c.846+4_846+7del

Gene:
CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_007194.4(CHEK2):c.846+4_846+7del
HGVS:
  • NC_000022.11:g.28710002_28710005del
  • NG_008150.2:g.36865_36868del
  • NM_001005735.2:c.975+4_975+7del
  • NM_001257387.2:c.183+4_183+7del
  • NM_001349956.2:c.645+4_645+7del
  • NM_007194.4:c.846+4_846+7delMANE SELECT
  • NM_145862.2:c.846+4_846+7del
  • LRG_302t1:c.846+4_846+7del
  • LRG_302:g.36865_36868del
  • NC_000022.10:g.29105987_29105990del
  • NC_000022.10:g.29105990_29105993del
  • NG_008150.1:g.36833_36836del
  • NM_007194.3:c.846+4_846+7delAGTA
Links:
dbSNP: rs764884641
NCBI 1000 Genomes Browser:
rs764884641
Molecular consequence:
  • NM_001005735.2:c.975+4_975+7del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001257387.2:c.183+4_183+7del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349956.2:c.645+4_645+7del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007194.4:c.846+4_846+7del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_145862.2:c.846+4_846+7del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Li-Fraumeni syndrome 2 (TPDS4)
Synonyms:
TUMOR PREDISPOSITION SYNDROME 4; CANCER PREDISPOSITION SYNDROME, CHEK2-RELATED
Identifiers:
MedGen: C1836482; Orphanet: 524; OMIM: 609265

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001251374King Laboratory, University of Washington
no assertion criteria provided
Pathogenic
(Sep 1, 2019) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Characterization of splice-altering mutations in inherited predisposition to cancer.

Casadei S, Gulsuner S, Shirts BH, Mandell JB, Kortbawi HM, Norquist BS, Swisher EM, Lee MK, Goldberg Y, O'Connor R, Tan Z, Pritchard CC, King MC, Walsh T.

Proc Natl Acad Sci U S A. 2019 Dec 26;116(52):26798-26807. doi: 10.1073/pnas.1915608116. Epub 2019 Dec 16.

PubMed [citation]
PMID:
31843900
PMCID:
PMC6936554

Details of each submission

From King Laboratory, University of Washington, SCV001251374.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024