ClinVar Genomic variation as it relates to human health
NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)
Germline
Classification
(3)
Pathogenic
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
ATM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10851 | 17461 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 4, 2023 | RCV002886138.3 | |
Pathogenic (1) |
|
- | RCV003332389.1 | |
Pathogenic (1) |
|
Jan 19, 2024 | RCV004066007.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024