NM_005359.6(SMAD4):c.290G>T (p.Arg97Leu) AND Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001261772.1

Allele description [Variation Report for NM_005359.6(SMAD4):c.290G>T (p.Arg97Leu)]

NM_005359.6(SMAD4):c.290G>T (p.Arg97Leu)

Gene:

SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.2

Genomic location:

Preferred name:

NM_005359.6(SMAD4):c.290G>T (p.Arg97Leu)

HGVS:

NC_000018.10:g.51048726G>T
NG_013013.2:g.85687G>T
NM_005359.6:c.290G>TMANE SELECT
NP_005350.1:p.Arg97Leu
NP_005350.1:p.Arg97Leu
LRG_318t1:c.290G>T
LRG_318:g.85687G>T
LRG_318p1:p.Arg97Leu
NC_000018.9:g.48575096G>T
NM_005359.5:c.290G>T

Protein change:

R97L

Links:

dbSNP: rs1555685159

NCBI 1000 Genomes Browser:

rs1555685159

Molecular consequence:

NM_005359.6:c.290G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001439088	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001439088

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

inherited

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections.

Duan XY, Guo DC, Regalado ES, Shen H; University of Washington Center for Mendelian Genomics, Coselli JS, Estrera AL, Safi HJ, Bamshad MJ, Nickerson DA, LeMaire SA, De Backer J, Milewicz DM.

Eur J Hum Genet. 2019 Jul;27(7):1054-1060. doi: 10.1038/s41431-019-0357-x. Epub 2019 Feb 26.

PubMed [citation]

PMID:: 30809044
PMCID:: PMC6777456

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001439088.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 3, 2025

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