Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM p.Ser49Phe (p.S49F)
(
ENST00000640388.1,
ENST00000684029.1,
ENST00000682465.1,
ENST00000639953.1,
ENST00000675843.1,
ENST00000683914.2,
ENST00000683468.1,
ENST00000452508.7,
ENST00000278616.10,
ENST00000713847.1,
ENST00000526567.5,
ENST00000713845.1,
ENST00000639240.1,
ENST00000601453.3,
ENST00000531525.3,
ENST00000532931.6,
ENST00000530958.5,
ENST00000713846.1,
ENST00000683150.1,
ENST00000713844.1 )
ATM p.Ser49Phe (p.S49F) ( ENST00000278616.10, ENST00000452508.7, ENST00000526567.5, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1, ENST00000682465.1, ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.146C>T (p.Ser49Phe) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 139445
- ClinVar RefSeq Alternation Syntax
- NM_001351836.2:c.146C>T
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.146C>T
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.146C>T
- ClinVar RefSeq Alternation Syntax
- NM_001351835.2:c.146C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-06-29
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000574147
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs