Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 p.Lys249ArgfsTer5 (p.K249Rfs*5)
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713860.1,
ENST00000713861.1,
ENST00000713919.1 )
MSH2 p.Lys249ArgfsTer5 (p.K249Rfs*5) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000251.3(MSH2):c.746del (p.Lys249fs) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 96670
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.548del
- ClinVar RefSeq Alternation Syntax
- NM_000251.3:c.746del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000164791
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs