chr18:48593494:CAGA> 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	chr18:48,593,494-48,593,497
hg38	chr18:51,067,124-51,067,127

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1245_1248delCAGA	NP_005350.1:p.Asp415GlufsTer20
Ensemble	ENST00000593223.2:c.1245_1248delCAGA	ENST00000593223.2:p.Asp415GlufsTer20
	ENST00000588745.5:c.957_960delCAGA	ENST00000588745.5:p.Asp319GlufsTer20
	ENST00000342988.8:c.1245_1248delCAGA	ENST00000342988.8:p.Asp415GlufsTer20
	ENST00000398417.6:c.1245_1248delCAGA	ENST00000398417.6:p.Asp415GlufsTer20
	ENST00000588860.6:c.1245_1248delCAGA	ENST00000588860.6:p.Asp415GlufsTer20
	ENST00000589076.6:c.1245_1248delCAGA	ENST00000589076.6:p.Asp415GlufsTer20
	ENST00000589941.2:c.1245_1248delCAGA	ENST00000589941.2:p.Asp415GlufsTer20
	ENST00000590061.2:c.1245_1248delCAGA	ENST00000590061.2:p.Asp415GlufsTer20
	ENST00000714261.1:c.1284_1287delCAGA	ENST00000714261.1:p.Asp428GlufsTer20
	ENST00000714264.1:c.1326_1329delCAGA	ENST00000714264.1:p.Asp442GlufsTer20
	ENST00000714266.1:c.1032_1035delCAGA	ENST00000714266.1:p.Asp344GlufsTer20
	ENST00000714268.1:c.1215_1218delCAGA	ENST00000714268.1:p.Asp405GlufsTer20
	ENST00000714269.1:c.1017_1020delCAGA	ENST00000714269.1:p.Asp339GlufsTer20
	ENST00000714270.1:c.1323_1326delCAGA	ENST00000714270.1:p.Asp441GlufsTer20
	ENST00000714272.1:c.1221_1224delCAGA	ENST00000714272.1:p.Asp407GlufsTer20

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	5
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM1266191	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/04/20	descending colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2019/10/06	stomach	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	fundus of stomach	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	ill-defined sites within the digestive system	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-01-26	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2020-02-05	criteria provided, multiple submitters, no conflicts	Generalized juvenile polyposis/juvenile polyposis coli	germline unknown	Detail
Pathogenic	2023-09-20	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2018-09-07	criteria provided, single submitter	Myhre syndrome,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Carcinoma of pancreas,Generalized juvenile polyposis/juvenile polyposis coli	germline	Detail
Pathogenic	2018-09-07	criteria provided, single submitter	Myhre syndrome,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Carcinoma of pancreas,Generalized juvenile polyposis/juvenile polyposis coli	germline	Detail
Pathogenic	2018-09-07	criteria provided, single submitter	Myhre syndrome,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Carcinoma of pancreas,Generalized juvenile polyposis/juvenile polyposis coli	germline	Detail
Pathogenic	2018-09-07	criteria provided, single submitter	Myhre syndrome,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Carcinoma of pancreas,Generalized juvenile polyposis/juvenile polyposis coli	germline	Detail
Pathogenic		no assertion criteria provided	Carcinoma of colon	unknown	Detail
Pathogenic	2024-01-20	criteria provided, single submitter	juvenile polyposis syndrome	germline	Detail
Pathogenic	2021-07-28	criteria provided, single submitter	Hereditary cancer-predisposing syndrome,Familial thoracic aortic aneurysm and aortic dissection	germline	Detail
Pathogenic	2021-07-28	criteria provided, single submitter	Hereditary cancer-predisposing syndrome,Familial thoracic aortic aneurysm and aortic dissection	germline	Detail
Pathogenic	2021-03-30	criteria provided, single submitter	Carcinoma of pancreas,Myhre syndrome,juvenile polyposis syndrome,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	germline	Detail
Pathogenic	2021-03-30	criteria provided, single submitter	Carcinoma of pancreas,Myhre syndrome,juvenile polyposis syndrome,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	germline	Detail
Pathogenic	2021-03-30	criteria provided, single submitter	Carcinoma of pancreas,Myhre syndrome,juvenile polyposis syndrome,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	germline	Detail
Pathogenic	2021-03-30	criteria provided, single submitter	Carcinoma of pancreas,Myhre syndrome,juvenile polyposis syndrome,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	germline	Detail
Pathogenic	2024-02-09	criteria provided, single submitter	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.588	juvenile polyposis syndrome	NA	CLINVAR		Detail
0.361	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)	NA	CLINVAR		Detail
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND Generalized juvenile polyposis/juvenile polypo...	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND not provided	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND Carcinoma of colon	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND Juvenile polyposis syndrome	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) AND Juvenile polyposis/hereditary hemorrhagic tela...	ClinVar	Detail
NA	DisGeNET	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: rs80338965 dbSNP
Genome: hg19
Position: chr18:48,593,494-48,593,497
Variant Type: snv
Reference Allele: CAGA
Alternative Allele: -

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