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

Clinical significance:Pathogenic (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000763474.1

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)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; CHEK2-Related Breast Cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Li-Fraumeni syndrome 2 (LFS2)
Identifiers:
MONDO: MONDO:0012233; MedGen: C1836482; Orphanet: 524; OMIM: 609265
Name:
Bone osteosarcoma
Synonyms:
Osteogenic sarcoma; Osteosarcoma, somatic
Identifiers:
MONDO: MONDO:0002629; MeSH: D012516; MedGen: C0585442; Orphanet: 668; OMIM: 259500; Human Phenotype Ontology: HP:0002669
Name:
Malignant tumor of prostate
Synonyms:
Prostate cancer; Prostatic cancer
Identifiers:
MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; OMIM: 176807; Human Phenotype Ontology: HP:0012125

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000894256Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Pathogenic
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000894256.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 24, 2021

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