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NM_005359.6(SMAD4):c.290G>T (p.Arg97Leu) AND Heritable Thoracic Aortic Disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 1, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000678041.3

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
Identifiers:
MedGen: CN868256

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804195Department of Internal Medicine, The University of Texas McGovern Medical School, The University of Texas Health Science Center at Houston
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 1, 2018) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Internal Medicine, The University of Texas McGovern Medical School, The University of Texas Health Science Center at Houston, SCV000804195.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (1)

Description

"effect on RNA stability" was previously submitted as the functional consequence for NM_005359.5:c.290G>T, but without providing the result of a functional assay.

Description

This variant was identified in a family with thoracic aortic disease and no evidence of juvenile polyposis and/or hereditary hemorrhagic telangiectasia

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Aug 3, 2025