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NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
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:
RCV000600367.1

Allele description [Variation Report for NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter)]

NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter)
HGVS:
  • NC_000015.10:g.48490037C>A
  • NG_008805.2:g.160752G>T
  • NM_000138.5:c.2896G>TMANE SELECT
  • NP_000129.3:p.Glu966Ter
  • NP_000129.3:p.Glu966Ter
  • LRG_778t1:c.2896G>T
  • LRG_778:g.160752G>T
  • LRG_778p1:p.Glu966Ter
  • NC_000015.9:g.48782234C>A
  • NM_000138.4:c.2896G>T
Protein change:
E966*
Links:
dbSNP: rs1555398830
NCBI 1000 Genomes Browser:
rs1555398830
Molecular consequence:
  • NM_000138.5:c.2896G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000731218Centre for Genomic and Experimental Medicine, University of Edinburgh
no assertion criteria provided
Pathogenicunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Centre for Genomic and Experimental Medicine, University of Edinburgh, SCV000731218.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024