Annotation Detail

Information
Associated Genes
MSH2
Associated Variants
MSH2 p.Gln493Ter (p.Q493*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Gln493Ter (p.Q493*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
Associated Disease
Hereditary cancer-predisposing syndrome
Source Database
ClinVar
Description
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter) AND Hereditary cancer-predisposing syndrome
ClinVar Allele ID
96152
ClinVar RefSeq Alternation Syntax
NM_000251.3:c.1477C>T
ClinVar RefSeq Alternation Syntax
NM_001258281.1:c.1279C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2020-01-15
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000129104
ClinVar Disease
Hereditary cancer-predisposing syndrome
Observed Origin Sample
germline
Drugs