ClinVar Genomic variation as it relates to human health
NM_000051.4(ATM):c.8172_8189del (p.Asp2725_Gln2730del)
Germline
No data submitted for germline classification
Somatic
No data submitted for somatic clinical impact
Somatic
Oncogenicity
(1)
Uncertain significance
criteria provided, single submitter
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 | |
C11orf65 | - | - | - |
GRCh38 GRCh37 |
3 | 6578 |
Conditions - Somatic
Tumor type | Clinical impact (# of submissions) | Oncogenicity | Last evaluated | Variation/condition record |
---|---|---|---|---|
|
Uncertain significance
|
Jul 31, 2024 | RCV004674113.1 |
Citations for somatic classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024