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Variant : CV236529 (NM_005359.5(SMAD4):c.369T>C (p.Cys123=)) Homo sapiens

Symbol: CV236529
Name: NM_005359.5(SMAD4):c.369T>C (p.Cys123=)
Condition: Cardiovascular phenotype [RCV000213442]|Hereditary cancer-predisposing syndrome [RCV000213442]|Hereditary cancer-predisposing syndrome [RCV000771472]|Juvenile polyposis syndrome [RCV000230819]|Tumor predisposition syndrome [RCV000213442]|Tumor susceptibility linked to germline BAP1 mutations [RCV000213442]|not specified [RCV000600299]
Clinical Significance: likely benign
Last Evaluated: 12/13/2017
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.369T>C
LRG_318:g.85766T>C
NG_013013.2:g.85766T>C
NC_000018.10:g.51048805T>C
NC_000018.9:g.48575175T>C
LRG_318p1:p.Cys123=
NP_005350.1:p.Cys123=
NM_005359.5:c.369T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,048,805 - 51,048,805CLINVAR
GRCh371848,575,175 - 48,575,175CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition
Age Of Onset: adult
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11088331
Created: 2016-06-07
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.