ClinVar Genomic variation as it relates to human health
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)
Germline
Classification
(6)
Pathogenic
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
Oncogenicity
(1)
Oncogenic
criteria provided, single submitter
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
SMAD4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2152 | 2194 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (2) |
|
Feb 9, 2024 | RCV000023059.12 | |
Pathogenic (1) |
|
Apr 10, 2018 | RCV000493396.9 | |
Pathogenic (1) |
|
Oct 30, 2020 | RCV001374448.9 | |
Pathogenic (1) |
|
Apr 15, 2023 | RCV001376567.12 | |
Pathogenic (1) |
|
Aug 27, 2021 | RCV002310634.9 |
Citations for germline classification of this variant
HelpConditions - Somatic
Tumor type | Clinical impact (# of submissions) | Oncogenicity | Last evaluated | Variation/condition record |
---|---|---|---|---|
|
Oncogenic
|
Jul 31, 2024 | RCV004668739.1 |
Citations for somatic classification of this variant
HelpText-mined citations for rs377767360 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Aug 25, 2024