ClinVar Genomic variation as it relates to human health
NM_001349798.2(FBXW7):c.1659T>C (p.His553=)
Germline
Classification
(2)
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 | |||
FBXW7 | - | - |
GRCh38 GRCh37 |
137 | 172 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 13, 2020 | RCV002395077.2 | |
FBXW7-related disorder
|
Likely benign (1) |
|
Aug 16, 2019 | RCV004548292.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 27, 2024