Annotation Detail

Information
Associated Genes
MSH2
Associated Variants
MSH2 p.Gln409ArgfsTer7 (p.Q409Rfs*7) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln409ArgfsTer7 (p.Q409Rfs*7) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
Associated Disease
Hereditary nonpolyposis colorectal neoplasms
Source Database
ClinVar
Description
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) AND Hereditary nonpolyposis colorectal neoplasms
ClinVar Allele ID
96052
ClinVar RefSeq Alternation Syntax
NM_000251.3:c.1226_1227del
ClinVar RefSeq Alternation Syntax
NM_001258281.1:c.1028_1029del
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2024-01-31
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000524336
ClinVar Disease
Hereditary nonpolyposis colorectal neoplasms
Observed Origin Sample
germline
Drugs