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NM_005902.4(SMAD3):c.*654A>G AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000292705.5

Allele description [Variation Report for NM_005902.4(SMAD3):c.*654A>G]

NM_005902.4(SMAD3):c.*654A>G

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.*654A>G
HGVS:
  • NC_000015.10:g.67191190A>G
  • NG_011990.1:g.130334A>G
  • NM_001145102.2:c.*654A>G
  • NM_001145103.2:c.*654A>G
  • NM_001145104.2:c.*654A>G
  • NM_005902.4:c.*654A>GMANE SELECT
  • NC_000015.9:g.67483528A>G
  • NM_005902.3:c.*654A>G
Links:
dbSNP: rs571689385
NCBI 1000 Genomes Browser:
rs571689385
Molecular consequence:
  • NM_001145102.2:c.*654A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001145103.2:c.*654A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001145104.2:c.*654A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_005902.4:c.*654A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000393540Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000393540.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023