Annotation Detail

Information
Associated Genes
ATM
Associated Variants
ATM p.Arg35Ter (p.R35*) ( ENST00000532931.6, ENST00000452508.7, ENST00000601453.3, ENST00000530958.5, ENST00000278616.10, ENST00000526567.5, ENST00000531525.3, 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 )
ATM p.Arg35Ter (p.R35*) ( 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.103C>T (p.Arg35Ter) AND Hereditary cancer-predisposing syndrome
ClinVar Allele ID
18064
ClinVar RefSeq Alternation Syntax
NM_001351834.2:c.103C>T
ClinVar RefSeq Alternation Syntax
NM_001351835.2:c.103C>T
ClinVar RefSeq Alternation Syntax
NM_001351836.2:c.103C>T
ClinVar RefSeq Alternation Syntax
NM_000051.4:c.103C>T
Clinical Significance Description
Pathogenic/Likely pathogenic
Clinical Significance Last Update
2023-02-17
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000130278
ClinVar Disease
Hereditary cancer-predisposing syndrome
Observed Origin Sample
germline
Drugs