Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 p.Gly322Asp (p.G322D)
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713860.1,
ENST00000713861.1,
ENST00000713919.1 )
MSH2 p.Gly322Asp (p.G322D) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 ) - Associated Disease
- breast carcinoma
- Source Database
- ClinVar
- Description
- NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) AND Breast carcinoma
- ClinVar Allele ID
- 16801
- ClinVar RefSeq Alternation Syntax
- NM_000251.3:c.965G>A
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.767G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-01-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001262750
- ClinVar Disease
- Breast carcinoma
- Observed Origin Sample
- unknown
Drugs