chr18:48604676: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	chr18:48,604,676-48,604,676
hg38	chr18:51,078,306-51,078,306 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1498A>G	NP_005350.1:p.Ile500Val
Ensemble	ENST00000342988.8:c.1498A>G	ENST00000342988.8:p.Ile500Val
	ENST00000398417.6:c.1498A>G	ENST00000398417.6:p.Ile500Val
	ENST00000588745.5:c.1210A>G	ENST00000588745.5:p.Ile404Val
	ENST00000588860.6:c.1498A>G	ENST00000588860.6:p.Ile500Val
	ENST00000589076.6:c.1498A>G	ENST00000589076.6:p.Ile500Val
	ENST00000589941.2:c.1498A>G	ENST00000589941.2:p.Ile500Val
	ENST00000590061.2:c.1498A>G	ENST00000590061.2:p.Ile500Val
	ENST00000593223.2:c.*1495A>G
	ENST00000714261.1:c.1537A>G	ENST00000714261.1:p.Ile513Val
	ENST00000714264.1:c.1579A>G	ENST00000714264.1:p.Ile527Val
	ENST00000714266.1:c.1285A>G	ENST00000714266.1:p.Ile429Val
	ENST00000714268.1:c.1468A>G	ENST00000714268.1:p.Ile490Val
	ENST00000714269.1:c.1270A>G	ENST00000714269.1:p.Ile424Val
	ENST00000714270.1:c.1576A>G	ENST00000714270.1:p.Ile526Val
	ENST00000714272.1:c.1474A>G	ENST00000714272.1:p.Ile492Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Pathogenic	2023-04-20	criteria provided, multiple submitters, no conflicts	Myhre syndrome	de novo germline inherited unknown	Detail
Pathogenic	2024-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline not provided unknown	Detail
Pathogenic	2021-07-09	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2018-04-27	criteria provided, single submitter	Generalized juvenile polyposis/juvenile polyposis coli	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Generalized juvenile polyposis/juvenile polyposis coli,Carcinoma of pancreas,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Generalized juvenile polyposis/juvenile polyposis coli,Carcinoma of pancreas,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Generalized juvenile polyposis/juvenile polyposis coli,Carcinoma of pancreas,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Generalized juvenile polyposis/juvenile polyposis coli,Carcinoma of pancreas,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome	unknown	Detail
Pathogenic	2019-03-11	criteria provided, single submitter	Generalized juvenile polyposis/juvenile polyposis coli,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome	germline	Detail
Pathogenic	2019-03-11	criteria provided, single submitter	Generalized juvenile polyposis/juvenile polyposis coli,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome	germline	Detail
Pathogenic	2019-03-11	criteria provided, single submitter	Generalized juvenile polyposis/juvenile polyposis coli,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome	germline	Detail
Pathogenic	2020-09-10	criteria provided, single submitter	intellectual disability	de novo	Detail
Pathogenic	2020-04-16	criteria provided, single submitter		de novo	Detail
Pathogenic	2023-12-01	criteria provided, multiple submitters, no conflicts	juvenile polyposis syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.482	Growth mental deficiency syndrome of Myhre	NA	CLINVAR		Detail
0.482	Growth mental deficiency syndrome of Myhre	Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndro...	UNIPROT	22158539	Detail
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND Myhre syndrome	ClinVar	Detail
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND not provided	ClinVar	Detail
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND Inborn genetic diseases	ClinVar	Detail
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND Generalized juvenile polyposis/juvenile polyposis col...	ClinVar	Detail
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND Intellectual disability	ClinVar	Detail
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND Neurodevelopmental delay	ClinVar	Detail
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND Juvenile polyposis syndrome	ClinVar	Detail
NA	DisGeNET	Detail
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.	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: rs281875322 dbSNP
Genome: hg19
Position: chr18:48,604,676-48,604,676
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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