chr18:48591826:A>G 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	chr18:48,591,826-48,591,826
hg38	chr18:51,065,456-51,065,456 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.989A>G	NP_005350.1:p.Glu330Gly
Ensemble	ENST00000342988.8:c.989A>G	ENST00000342988.8:p.Glu330Gly
	ENST00000398417.6:c.989A>G	ENST00000398417.6:p.Glu330Gly
	ENST00000588745.5:c.701A>G	ENST00000588745.5:p.Glu234Gly
	ENST00000593223.2:c.989A>G	ENST00000593223.2:p.Glu330Gly
	ENST00000714272.1:c.965A>G	ENST00000714272.1:p.Glu322Gly
	ENST00000590061.2:c.989A>G	ENST00000590061.2:p.Glu330Gly
	ENST00000714261.1:c.1028A>G	ENST00000714261.1:p.Glu343Gly
	ENST00000714264.1:c.1070A>G	ENST00000714264.1:p.Glu357Gly
	ENST00000714266.1:c.776A>G	ENST00000714266.1:p.Glu259Gly
	ENST00000714268.1:c.959A>G	ENST00000714268.1:p.Glu320Gly
	ENST00000714269.1:c.989A>G	ENST00000714269.1:p.Glu330Gly
	ENST00000714270.1:c.1067A>G	ENST00000714270.1:p.Glu356Gly
	ENST00000588860.6:c.989A>G	ENST00000588860.6:p.Glu330Gly
	ENST00000589076.6:c.989A>G	ENST00000589076.6:p.Glu330Gly
	ENST00000589941.2:c.989A>G	ENST00000589941.2:p.Glu330Gly

Summary

MGeND

Clinical significance	not provided
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

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	COSM4754641	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		pyloric antrum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		pyloric antrum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	not provided	not provided	Detail
Likely pathogenic	2014-02-24	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.588	juvenile polyposis syndrome	NA	CLINVAR		Detail
0.588	juvenile polyposis syndrome	Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.	UNIPROT	12417513	Detail
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly) AND not provided	ClinVar	Detail
NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NA	DisGeNET	Detail
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.	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: rs281875324 dbSNP
Genome: hg19
Position: chr18:48,591,826-48,591,826
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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