chr18:48591891:G>A Detail (hg19) (SMAD4)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr18:48,591,891-48,591,891
hg38	chr18:51,065,521-51,065,521 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1054G>A	NP_005350.1:p.Gly352Arg
Ensemble	ENST00000593223.2:c.1054G>A	ENST00000593223.2:p.Gly352Arg
	ENST00000342988.8:c.1054G>A	ENST00000342988.8:p.Gly352Arg
	ENST00000588745.5:c.766G>A	ENST00000588745.5:p.Gly256Arg
	ENST00000398417.6:c.1054G>A	ENST00000398417.6:p.Gly352Arg
	ENST00000589076.6:c.1054G>A	ENST00000589076.6:p.Gly352Arg
	ENST00000714272.1:c.1030G>A	ENST00000714272.1:p.Gly344Arg
	ENST00000714270.1:c.1132G>A	ENST00000714270.1:p.Gly378Arg
	ENST00000714269.1:c.1002+52G>A
	ENST00000714268.1:c.1024G>A	ENST00000714268.1:p.Gly342Arg
	ENST00000714266.1:c.841G>A	ENST00000714266.1:p.Gly281Arg
	ENST00000714264.1:c.1135G>A	ENST00000714264.1:p.Gly379Arg
	ENST00000714261.1:c.1093G>A	ENST00000714261.1:p.Gly365Arg
	ENST00000590061.2:c.1054G>A	ENST00000590061.2:p.Gly352Arg
	ENST00000589941.2:c.1054G>A	ENST00000589941.2:p.Gly352Arg
	ENST00000588860.6:c.1054G>A	ENST00000588860.6:p.Gly352Arg

Summary

MGeND

Clinical significance	not provided
Variant entry	5
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

SMAD4

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	COSM1150607	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		body of stomach	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		malignant neoplasm of gallbladder	not provided	MGS000040 (TMGS000095)	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
Pathogenic	2004-03-13	no assertion criteria provided	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	germline	Detail
Pathogenic	2018-06-01	criteria provided, single submitter	not provided	germline not provided	Detail
Pathogenic Likely pathogenic	2021-12-29	criteria provided, multiple submitters, no conflicts	juvenile polyposis syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.361	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)	NA	CLINVAR		Detail
0.588	juvenile polyposis syndrome	Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.	UNIPROT	12417513	Detail
0.361	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)	Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.	UNIPROT	12417513	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) AND Juvenile polyposis/hereditary hemorrhagic telangiecta...	ClinVar	Detail
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) AND not provided	ClinVar	Detail
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) AND Juvenile polyposis syndrome	ClinVar	Detail
NA	DisGeNET	Detail
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.	DisGeNET	Detail
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.	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: rs121912581 dbSNP
Genome: hg19
Position: chr18:48,591,891-48,591,891
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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