ClinVar Genomic variation as it relates to human health
NM_147686.4(TRAF3IP2):c.1236T>C (p.Ala412=)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
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 | |||
TRAF3IP2 | - | - |
GRCh38 GRCh37 |
- | 268 | |
TRAF3IP2-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 268 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Aug 18, 2023 | RCV003745641.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024