chr18:48603032:C>T Detail (hg19) (SMAD4)

Information

Genome

Assembly Position
hg19 chr18:48,603,032-48,603,032
hg38 chr18:51,076,662-51,076,662 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005359.5:c.1333C>T NP_005350.1:p.Arg445Ter
Ensemble ENST00000593223.2:c.1333C>T ENST00000593223.2:p.Arg445Ter
ENST00000398417.6:c.1333C>T ENST00000398417.6:p.Arg445Ter
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 7
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600993 OMIM
HGNC 6770 HGNC
Ensembl ENSG00000141646 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM14096 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided ill-defined sites within the digestive system not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided intrahepatic bile duct carcinoma not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided head of pancreas not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided ill-defined sites within the digestive system not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic Juvenile polyposis germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
not provided Bladder cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Small bowel cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-02-09 criteria provided, single submitter Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome germline unknown Detail
Pathogenic 2018-04-10 criteria provided, single submitter not provided germline Detail
Pathogenic 2020-10-30 no assertion criteria provided gallbladder cancer somatic Detail
Pathogenic 2023-04-15 criteria provided, single submitter juvenile polyposis syndrome germline Detail
Pathogenic 2021-08-27 criteria provided, single submitter Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2021-08-27 criteria provided, single submitter Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.588 juvenile polyposis syndrome NA CLINVAR Detail
0.361 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) NA CLINVAR Detail
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.002 severe combined immunodeficiency Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)a... BeFree 24077944 Detail
<0.001 severe combined immunodeficiency Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)a... BeFree 24077944 Detail
0.121 Adenocarcinoma Of Esophagus Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)a... BeFree 24077944 Detail
0.132 Adenocarcinoma Of Esophagus Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)a... BeFree 24077944 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) AND Juvenile polyposis/hereditary hemorrhagic telangiecta... ClinVar Detail
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) AND not provided ClinVar Detail
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) AND Gallbladder cancer ClinVar Detail
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) AND Juvenile polyposis syndrome ClinVar Detail
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) AND multiple conditions ClinVar Detail
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c... DisGeNET Detail
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c... DisGeNET Detail
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c... DisGeNET Detail
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs377767360 dbSNP
Genome
hg19
Position
chr18:48,603,032-48,603,032
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8612
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120524
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.297102651754007E-6
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