ClinVar Genomic variation as it relates to human health
NM_014477.3(TP53TG5):c.865T>C (p.Tyr289His)
Germline
Classification
(1)
Uncertain significance
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 | |||
SYS1 | - | - |
GRCh38 GRCh37 |
- | 37 | |
SYS1-DBNDD2 | - | - | - | GRCh38 | - | 56 |
TP53TG5 | - | - |
GRCh38 GRCh37 |
- | 29 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 15, 2021 | RCV004160341.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024