ClinVar Genomic variation as it relates to human health
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)
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 |
10833 | 17429 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 5, 2024 | RCV002383236.3 | |
Pathogenic (1) |
|
Sep 19, 2022 | RCV003094922.3 | |
Pathogenic (1) |
|
Jan 11, 2024 | RCV004057785.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024