NM_000138.4(FBN1):c.6866G>T (p.Cys2289Phe) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Jan 20, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000755189.1

Allele description [Variation Report for NM_000138.4(FBN1):c.6866G>T (p.Cys2289Phe)]

NM_000138.4(FBN1):c.6866G>T (p.Cys2289Phe)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.4(FBN1):c.6866G>T (p.Cys2289Phe)
HGVS:
  • NC_000015.10:g.48430676C>A
  • NG_008805.2:g.220113G>T
  • NM_000138.4:c.6866G>T
  • NP_000129.3:p.Cys2289Phe
  • LRG_778t1:c.6866G>T
  • LRG_778:g.220113G>T
  • LRG_778p1:p.Cys2289Phe
  • NC_000015.9:g.48722873C>A
Protein change:
C2289F
Links:
dbSNP: rs1566894230
NCBI 1000 Genomes Browser:
rs1566894230
Molecular consequence:
  • NM_000138.4:c.6866G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial thoracic aortic aneurysm
Identifiers:
MedGen: CN240756
Name:
Acute aortic dissection
Identifiers:
MedGen: C0241868

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000883018University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedLikely pathogenic
(Jan 20, 2016)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

Regalado ES, Guo DC, Santos-Cortez RL, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP, Leal SM, Bamshad M, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics., Milewicz DM.

Clin Genet. 2016 Jun;89(6):719-23. doi: 10.1111/cge.12702. Epub 2016 Jan 20.

PubMed [citation]
PMID:
26621581
PMCID:
PMC4873375

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000883018.1

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

Last Updated: Jun 7, 2020

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