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Variant : CV151967 (NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs)) Homo sapiens

Symbol: CV151967
Name: NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs)
Condition: Hereditary cancer-predisposing syndrome [RCV000131266]|Juvenile polyposis syndrome [RCV000205495]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021727]|Myhre syndrome [RCV000768095]|Neoplastic Syndromes, Hereditary [RCV000131266]|not provided [RCV000254690]
Clinical Significance: pathogenic
Last Evaluated: 12/25/2018
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: SMAD4  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing|literature only
HGVS Name(s): p.D415EfsX20
p.D415EFS*20
c.1244_1247delACAG
p.Asp415Glufs*20
NM_005359.5:c.1245_1248delCAGA
LRG_318:g.104085_104088del
p.Asp415GlufsX20
LRG_318p1:p.Asp415fs
LRG_318t1:c.1245_1248del
NG_013013.2:g.104085_104088del
NC_000018.10:g.51067124_51067127del
NC_000018.9:g.48593494_48593497del
NC_000018.9:g.48593494_48593497delCAGA
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,067,124 - 51,067,127CLINVAR
GRCh371848,593,494 - 48,593,497CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Carcinoma of pancreas; JP/HHT SYNDROME; Juvenile polyposis syndrome; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Laryngotracheal stenosis, progressive, with short stature and arthropathy; Neoplastic Syndromes, Hereditary; PANCREATIC ACINAR CARCINOMA; Pancreatic cancer; Pancreatic cancer, somatic; PANCREATIC CARCINOMA; Pancreatic carcinoma, somatic; POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI; Tumor predisposition
Age Of Onset: adolescent|infancy
Prevalence: 1-9 / 100 000



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8697864
Created: 2014-08-12
Species: Homo sapiens
Last Modified: 2019-12-03
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.