Annotation Detail
Information
- Associated Genes
- CHEK2
- Associated Variants
-
CHEK2 p.Ile200Thr (p.I200T)
(
ENST00000348295.7,
ENST00000382580.6,
ENST00000402731.6,
ENST00000403642.5,
ENST00000404276.6,
ENST00000405598.5,
ENST00000425190.7,
ENST00000649563.1,
ENST00000650281.1 )
CHEK2 p.Ile200Thr (p.I200T) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 ) - Associated Disease
- Li-Fraumeni syndrome 2 Familial cancer of breast Malignant tumor of prostate bone osteosarcoma
- Source Database
- ClinVar
- Description
- NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) AND multiple conditions
- ClinVar Allele ID
- 20630
- ClinVar RefSeq Alternation Syntax
- NM_145862.2:c.470T>C
- ClinVar RefSeq Alternation Syntax
- NM_001349956.2:c.444+144T>C
- ClinVar RefSeq Alternation Syntax
- NM_001257387.2:c.-308T>C
- ClinVar RefSeq Alternation Syntax
- NM_007194.4:c.470T>C
- ClinVar RefSeq Alternation Syntax
- NM_001005735.2:c.599T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-01-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002054420
- ClinVar Disease
- Bone osteosarcoma
- ClinVar Disease
- Li-Fraumeni syndrome 2
- ClinVar Disease
- Malignant tumor of prostate
- ClinVar Disease
- Familial cancer of breast
- Observed Origin Sample
- germline
Drugs