chr18:48593406: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	chr18:48,593,406-48,593,406
hg38	chr18:51,067,036-51,067,036 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1157G>A	NP_005350.1:p.Gly386Asp
Ensemble	ENST00000588745.5:c.869G>A	ENST00000588745.5:p.Gly290Asp
	ENST00000398417.6:c.1157G>A	ENST00000398417.6:p.Gly386Asp
	ENST00000342988.8:c.1157G>A	ENST00000342988.8:p.Gly386Asp
	ENST00000593223.2:c.1157G>A	ENST00000593223.2:p.Gly386Asp
	ENST00000588860.6:c.1157G>A	ENST00000588860.6:p.Gly386Asp
	ENST00000589076.6:c.1157G>A	ENST00000589076.6:p.Gly386Asp
	ENST00000589941.2:c.1157G>A	ENST00000589941.2:p.Gly386Asp
	ENST00000590061.2:c.1157G>A	ENST00000590061.2:p.Gly386Asp
	ENST00000714261.1:c.1196G>A	ENST00000714261.1:p.Gly399Asp
	ENST00000714264.1:c.1238G>A	ENST00000714264.1:p.Gly413Asp
	ENST00000714266.1:c.944G>A	ENST00000714266.1:p.Gly315Asp
	ENST00000714268.1:c.1127G>A	ENST00000714268.1:p.Gly376Asp
	ENST00000714269.1:c.1003-74G>A
	ENST00000714270.1:c.1235G>A	ENST00000714270.1:p.Gly412Asp
	ENST00000714272.1:c.1133G>A	ENST00000714272.1:p.Gly378Asp

Summary

MGeND

Clinical significance	not provided
Variant entry	13
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	COSM1150895	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		colon, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		extrahepatic bile duct	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		ascending 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		malignant neoplasm of rectum	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		ascending 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		head 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

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
Likely 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	Carcinoma of esophagus	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	prostate adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	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.1157G>A (p.Gly386Asp) AND Juvenile polyposis/hereditary hemorrhagic telangiecta...	ClinVar	Detail
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) AND Neoplasm of the large intestine	ClinVar	Detail
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) AND Lung adenocarcinoma	ClinVar	Detail
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) AND Carcinoma of esophagus	ClinVar	Detail
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) AND Prostate adenocarcinoma	ClinVar	Detail
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) AND Gastric adenocarcinoma	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: rs121912580 dbSNP
Genome: hg19
Position: chr18:48,593,406-48,593,406
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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