chr18:51065525:A>C Detail (hg38) (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	chr18:48,591,895-48,591,895 View the variant detail on this assembly version.
hg38	chr18:51,065,525-51,065,525

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1058A>C	NP_005350.1:p.Tyr353Ser
Ensemble	ENST00000342988.8:c.1058A>C	ENST00000342988.8:p.Tyr353Ser
	ENST00000398417.6:c.1058A>C	ENST00000398417.6:p.Tyr353Ser
	ENST00000588745.5:c.770A>C	ENST00000588745.5:p.Tyr257Ser
	ENST00000588860.6:c.1058A>C	ENST00000588860.6:p.Tyr353Ser
	ENST00000589076.6:c.1058A>C	ENST00000589076.6:p.Tyr353Ser
	ENST00000589941.2:c.1058A>C	ENST00000589941.2:p.Tyr353Ser
	ENST00000590061.2:c.1058A>C	ENST00000590061.2:p.Tyr353Ser
	ENST00000593223.2:c.1058A>C	ENST00000593223.2:p.Tyr353Ser
	ENST00000714261.1:c.1097A>C	ENST00000714261.1:p.Tyr366Ser
	ENST00000714264.1:c.1139A>C	ENST00000714264.1:p.Tyr380Ser
	ENST00000714266.1:c.845A>C	ENST00000714266.1:p.Tyr282Ser
	ENST00000714268.1:c.1028A>C	ENST00000714268.1:p.Tyr343Ser
	ENST00000714269.1:c.1002+56A>C
	ENST00000714270.1:c.1136A>C	ENST00000714270.1:p.Tyr379Ser
	ENST00000714272.1:c.1034A>C	ENST00000714272.1:p.Tyr345Ser

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2021-10-19	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

Annotation

Annotations

Descrption	Source	Links
NM_005359.6(SMAD4):c.1058A>C (p.Tyr353Ser) AND Hereditary cancer-predisposing syndrome	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: rs377767346 dbSNP
Genome: hg38
Position: chr18:51,065,525-51,065,525
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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