chr18:48604664:C>T Detail (hg19) (SMAD4)

Information

Genome

Assembly Position
hg19 chr18:48,604,664-48,604,664
hg38 chr18:51,078,294-51,078,294 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005359.5:c.1486C>T NP_005350.1:p.Arg496Cys
Ensemble ENST00000593223.2:c.*1483C>T
ENST00000714266.1:c.1273C>T ENST00000714266.1:p.Arg425Cys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Conflicting classifications of pathogenicity
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 COSM6476007 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Myhre syndrome germline MGS000009
(TMGS000039)
Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-11-10 criteria provided, multiple submitters, no conflicts Myhre syndrome de novo germline unknown Detail
Pathogenic Likely pathogenic 2023-10-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2019-05-28 criteria provided, single submitter Generalized juvenile polyposis/juvenile polyposis coli unknown Detail
Likely pathogenic no assertion criteria provided de novo Detail
Pathogenic 2023-12-26 criteria provided, single submitter juvenile polyposis syndrome germline Detail
Pathogenic 2016-05-18 criteria provided, single submitter Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2016-05-18 criteria provided, single submitter Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2021-08-22 criteria provided, single submitter Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,juvenile polyposis syndrome,Carcinoma of pancreas,Myhre syndrome unknown Detail
Likely pathogenic 2021-08-22 criteria provided, single submitter Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,juvenile polyposis syndrome,Carcinoma of pancreas,Myhre syndrome unknown Detail
Likely pathogenic 2021-08-22 criteria provided, single submitter Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,juvenile polyposis syndrome,Carcinoma of pancreas,Myhre syndrome unknown Detail
Likely pathogenic 2021-08-22 criteria provided, single submitter Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,juvenile polyposis syndrome,Carcinoma of pancreas,Myhre syndrome unknown Detail
Pathogenic 2023-10-19 criteria provided, single submitter SMAD4-related disorder germline Detail
Uncertain significance 2023-02-07 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.482 Growth mental deficiency syndrome of Myhre NA CLINVAR Detail
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND Myhre syndrome ClinVar Detail
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND not provided ClinVar Detail
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND Generalized juvenile polyposis/juvenile polyposis col... ClinVar Detail
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND Moyamoya angiopathy ClinVar Detail
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND Juvenile polyposis syndrome ClinVar Detail
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND multiple conditions ClinVar Detail
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND multiple conditions ClinVar Detail
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND multiple conditions ClinVar Detail
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND multiple conditions ClinVar Detail
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND multiple conditions ClinVar Detail
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND multiple conditions ClinVar Detail
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND SMAD4-related disorder ClinVar Detail
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET 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
rs397518413 dbSNP
Genome
hg19
Position
chr18:48,604,664-48,604,664
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
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)
121366
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)
8.239539904091756E-6
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