chr18:48591919:G>A Detail (hg19) (SMAD4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:48,591,919-48,591,919 |
| hg38 | chr18:51,065,549-51,065,549 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005359.5:c.1082G>A | NP_005350.1:p.Arg361His |
| Ensemble | ENST00000342988.8:c.1082G>A | ENST00000342988.8:p.Arg361His |
| ENST00000588745.5:c.794G>A | ENST00000588745.5:p.Arg265His |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 97 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
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
|
descending colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectosigmoid junction |
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
|
head of pancreas |
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
|
fundus of stomach |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
body of stomach |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
caecum |
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
|
extrahepatic bile duct |
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 | ||||
|
not provided
|
2018/05/15 | stomach neoplasms |
somatic
|
MGS000017
(TMGS000034) |
Kohei Miyazono | Tokyo University | |||
|
Pathogenic
|
Pancreas |
somatic
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
Pathogenic
|
Carcinoma of colon (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
Pathogenic
|
Adenocarcinoma of pancreas |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
Pathogenic
|
Malignant tumor of rectum (disorder) |
unknown
|
MGS000024
(TMGS000083) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
colorectal cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
not provided
|
Biliary 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
|
|||
|
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
|
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
|
extrahepatic bile duct |
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
|
tail of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ill-defined sites within the digestive system |
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 |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Carcinoma of esophagus |
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 | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
Pathogenic
|
2020-11-20 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-06-22 | criteria provided, multiple submitters, no conflicts | juvenile polyposis syndrome |
germline
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Generalized juvenile polyposis/juvenile polyposis coli,Carcinoma of pancreas,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Generalized juvenile polyposis/juvenile polyposis coli,Carcinoma of pancreas,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Generalized juvenile polyposis/juvenile polyposis coli,Carcinoma of pancreas,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Generalized juvenile polyposis/juvenile polyposis coli,Carcinoma of pancreas,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome |
unknown
|
Detail |
|
Pathogenic
|
2021-10-28 | criteria provided, single submitter | Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-10-28 | criteria provided, single submitter | Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2024-02-09 | criteria provided, single submitter | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.361 | JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Carcinoma of esophagus | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Breast neoplasm | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND not provided | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Juvenile polyposis syndrome | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND multiple conditions | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND multiple conditions | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND multiple conditions | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND multiple conditions | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND multiple conditions | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND multiple conditions | ClinVar | Detail |
| NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Juvenile polyposis/hereditary hemorrhagic telangiecta... | ClinVar | Detail |
| NA | 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
- rs377767347 dbSNP
- Genome
- hg19
- Position
- chr18:48,591,919-48,591,919
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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