ClinVar Genomic variation as it relates to human health
NM_000399.5(EGR2):c.1190C>A (p.Pro397His)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
no assertion criteria provided
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 | |||
EGR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
399 | 423 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ERG2-related disorder
|
Pathogenic (1) |
|
Jun 30, 2020 | RCV003129582.2 |
Uncertain significance (1) |
|
Jan 6, 2016 | RCV003447336.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 17, 2024