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NM_005902.4(SMAD3):c.848T>A (p.Val283Glu) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 20, 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:
RCV000766260.1

Allele description [Variation Report for NM_005902.4(SMAD3):c.848T>A (p.Val283Glu)]

NM_005902.4(SMAD3):c.848T>A (p.Val283Glu)

Gene:
SMAD3:SMAD family member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.33
Genomic location:
Preferred name:
NM_005902.4(SMAD3):c.848T>A (p.Val283Glu)
HGVS:
  • NC_000015.10:g.67181430T>A
  • NG_011990.1:g.120574T>A
  • NM_001145102.2:c.533T>A
  • NM_001145103.2:c.716T>A
  • NM_001145104.2:c.263T>A
  • NM_005902.4:c.848T>AMANE SELECT
  • NP_001138574.1:p.Val178Glu
  • NP_001138575.1:p.Val239Glu
  • NP_001138576.1:p.Val88Glu
  • NP_005893.1:p.Val283Glu
  • NC_000015.9:g.67473768T>A
Protein change:
V178E
Links:
dbSNP: rs1566999601
NCBI 1000 Genomes Browser:
rs1566999601
Molecular consequence:
  • NM_001145102.2:c.533T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145103.2:c.716T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145104.2:c.263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005902.4:c.848T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000897680Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 20, 2018) 		unknownclinical testing

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

publication submitted

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark VC, Olfe J, Roser E, Seggewies FS, Mahlmann A, Hempel M, Hartmann MJ, Hillebrand M, Wieczorek D, Volk AE, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, et al.

Genet Med. 2019 Aug;21(8):1832-1841. doi: 10.1038/s41436-019-0435-z. Epub 2019 Jan 24.

PubMed [citation]
PMID:
30675029

Details of each submission

From Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, SCV000897680.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022