ClinVar Genomic variation as it relates to human health
NM_004881.5(TP53I3):c.804T>C (p.Ser268=)
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 | |||
FAM228B | - | - | - |
GRCh38 GRCh37 |
12 | 75 |
TP53I3 | - | - |
GRCh38 GRCh37 |
- | 56 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
TP53I3-related disorder
|
Likely benign (1) |
|
Mar 17, 2023 | RCV003969718.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024