chr18:48591918:C>A Detail (hg19) (SMAD4)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr18:48,591,918-48,591,918
hg38	chr18:51,065,548-51,065,548 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1081C>A	NP_005350.1:p.Arg361Ser
Ensemble	ENST00000588745.5:c.793C>A	ENST00000588745.5:p.Arg265Ser
	ENST00000398417.6:c.1081C>A	ENST00000398417.6:p.Arg361Ser
	ENST00000593223.2:c.1081C>A	ENST00000593223.2:p.Arg361Ser
	ENST00000589941.2:c.1081C>A	ENST00000589941.2:p.Arg361Ser
	ENST00000714272.1:c.1057C>A	ENST00000714272.1:p.Arg353Ser
	ENST00000714261.1:c.1120C>A	ENST00000714261.1:p.Arg374Ser
	ENST00000714269.1:c.1002+79C>A
	ENST00000714264.1:c.1162C>A	ENST00000714264.1:p.Arg388Ser
	ENST00000590061.2:c.1081C>A	ENST00000590061.2:p.Arg361Ser
	ENST00000714266.1:c.868C>A	ENST00000714266.1:p.Arg290Ser
	ENST00000588860.6:c.1081C>A	ENST00000588860.6:p.Arg361Ser
	ENST00000714268.1:c.1051C>A	ENST00000714268.1:p.Arg351Ser
	ENST00000342988.8:c.1081C>A	ENST00000342988.8:p.Arg361Ser
	ENST00000714270.1:c.1159C>A	ENST00000714270.1:p.Arg387Ser
	ENST00000589076.6:c.1081C>A	ENST00000589076.6:p.Arg361Ser

Summary

MGeND

Clinical significance	not provided
Variant entry	13
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	COSM14151	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		malignant neoplasm of rectum	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		body of stomach	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 rectosigmoid junction	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		tail of pancreas	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		pancreatic cancer	somatic	MGS000018 (TMGS000110)	Hitoshi Nakagama	National Cancer Center Japan	30742731
not provided		pyloric antrum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		caecum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		malignant neoplasm of rectosigmoid junction	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-10-02	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2021-11-17	criteria provided, single submitter	juvenile polyposis syndrome	germline	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
0.588	juvenile polyposis syndrome	Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account fo...	UNIPROT	9811934	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser) AND Neoplasm of the large intestine	ClinVar	Detail
NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser) AND Juvenile polyposis syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of case...	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: rs80338963 dbSNP
Genome: hg19
Position: chr18:48,591,918-48,591,918
Variant Type: snv
Reference Allele: C
Alternative Allele: A

Genome browser