Annotation Detail
Information
- Associated Genes
- ATM C11orf65
- Associated Variants
-
ATM p.Arg2939= (p.R2939=)
(
ENST00000278616.10,
ENST00000452508.7,
ENST00000601453.3,
ENST00000675843.1,
ENST00000713844.1,
ENST00000525729.5,
ENST00000615746.4 )
ATM p.Arg2939= (p.R2939=) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5, ENST00000615746.4 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.8815A>C (p.Arg2939=) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 475972
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.8815A>C
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.8815A>C
- ClinVar RefSeq Alternation Syntax
- NM_001330368.2:c.640+31081T>G
- ClinVar RefSeq Alternation Syntax
- NM_001351110.2:c.695-19547T>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2016-09-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000570023
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs