ClinVar Genomic variation as it relates to human health
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
Germline
Classification
(3)
Pathogenic/Likely 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 |
10994 | 17704 | |
C11orf65 | - | - | - |
GRCh38 GRCh37 |
3 | 6691 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 12, 2023 | RCV003297591.9 | |
Pathogenic/Likely pathogenic (2) |
|
Nov 7, 2023 | RCV003455796.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 08, 2025