chr18:51065549:G>A Detail (hg38) (SMAD4)

Information

Genome

Assembly Position
hg19 chr18:48,591,919-48,591,919 View the variant detail on this assembly version.
hg38 chr18:51,065,549-51,065,549

HGVS

Type Transcript Protein
RefSeq NM_005359.5:c.1082G>A NP_005350.1:p.Arg361His
Ensemble ENST00000593223.2:c.1082G>A ENST00000593223.2:p.Arg361His
ENST00000714261.1:c.1121G>A ENST00000714261.1:p.Arg374His
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 4
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 COSM14122 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2017/11/30 lung adenocarcinoma (metastasis) somatic MGS000017
(TMGS000052)
Kohei Miyazono Tokyo University
Pathogenic 2018/03/08 colon cancer somatic MGS000017
(TMGS000052)
Kohei Miyazono Tokyo University
Likely pathogenic 2018/04/12 Gall bladder cancer somatic MGS000017
(TMGS000052)
Kohei Miyazono Tokyo University
Pathogenic colorectal neoplasms, hereditary nonpolyposis somatic MGS000043
(TMGS000096)
Kohei Miyazono Tokyo University
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

DescrptionSourceLinks
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
hg38
Position
chr18:51,065,549-51,065,549
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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