chr18:48591918:C>T Detail (hg19) (SMAD4)

Information

Genome

Assembly Position
hg19 chr18:48,591,918-48,591,918
hg38 chr18:51,065,548-51,065,548 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005359.5:c.1081C>T NP_005350.1:p.Arg361Cys
Ensemble ENST00000588745.5:c.793C>T ENST00000588745.5:p.Arg265Cys
ENST00000398417.6:c.1081C>T ENST00000398417.6:p.Arg361Cys
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic not provided
Variant entry 77
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM14140 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided fundus of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided body of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided stomach, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided jejunum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided ileum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided intrahepatic bile duct carcinoma not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided ill-defined sites within the digestive system not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided body of stomach not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided stomach, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided duodenum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided jejunum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided small intestine, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided sigmoid colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectosigmoid junction not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000040
(TMGS000095) 		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 body 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
Likely pathogenic 2018/10/13 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Likely pathogenic 2018/10/13 juvenile polyposis syndrome germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic Colorectal somatic MGS000038
(TMGS000091) 		Manabu Muto
Ichiro Kinoshita		 Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
Pathogenic Primary adenocarcinoma of colon (disorder) unknown MGS000023
(TMGS000082) 		Manabu Muto Kyoto University
not provided fundus of stomach not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided body of stomach not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided jejunum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided small intestine, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided caecum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided sigmoid colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectosigmoid junction not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided head of pancreas not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided body of pancreas not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided tail of pancreas not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Generalized juvenile polyposis/juvenile polyposis coli unknown Detail
Pathogenic Likely pathogenic 2024-02-09 criteria provided, multiple submitters, no conflicts Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome unknown Detail
Pathogenic 2021-06-02 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Carcinoma of esophagus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of uterine cervix somatic Detail
Pathogenic 2023-10-30 criteria provided, single submitter juvenile polyposis syndrome germline unknown Detail
Pathogenic 2021-11-29 criteria provided, single submitter Hereditary cancer-predisposing syndrome,Familial thoracic aortic aneurysm and aortic dissection germline Detail
Pathogenic 2021-11-29 criteria provided, single submitter Hereditary cancer-predisposing syndrome,Familial thoracic aortic aneurysm and aortic dissection germline Detail
Pathogenic 2024-01-25 criteria provided, single submitter SMAD4-related disorder 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
0.588 juvenile polyposis syndrome Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account fo... UNIPROT 9811934 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND Generalized juvenile polyposis/juvenile polyposis col... ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND Juvenile polyposis/hereditary hemorrhagic telangiecta... ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND not provided ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND Gastric adenocarcinoma ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND Pancreatic adenocarcinoma ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND Breast neoplasm ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND Lung adenocarcinoma ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND Neoplasm of the large intestine ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND Carcinoma of esophagus ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND Neoplasm of uterine cervix ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND Juvenile polyposis syndrome ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND multiple conditions ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND multiple conditions ClinVar Detail
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) AND SMAD4-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of case... 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
rs80338963 dbSNP
Genome
hg19
Position
chr18:48,591,918-48,591,918
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser