Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM p.His1380Tyr (p.H1380Y)
(
ENST00000452508.7,
ENST00000278616.10,
ENST00000531525.3,
ENST00000601453.3,
ENST00000675843.1,
ENST00000713844.1 )
ATM p.His1380Tyr (p.H1380Y) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 ) - Associated Disease
- hereditary breast ovarian cancer syndrome
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) AND Hereditary breast ovarian cancer syndrome
- ClinVar Allele ID
- 137358
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.4138C>T
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.4138C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-04-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002225360
- ClinVar Disease
- Hereditary breast ovarian cancer syndrome
- Observed Origin Sample
- germline
Drugs