NM_012186.3(FOXE3):c.457G>C (p.Asp153His) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Feb 8, 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:
RCV000755150.1

Allele description [Variation Report for NM_012186.3(FOXE3):c.457G>C (p.Asp153His)]

NM_012186.3(FOXE3):c.457G>C (p.Asp153His)

Genes:
FOXE3:forkhead box E3 [Gene - OMIM - HGNC]
LINC01389:long intergenic non-protein coding RNA 1389 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p33
Genomic location:
Preferred name:
NM_012186.3(FOXE3):c.457G>C (p.Asp153His)
HGVS:
  • NC_000001.11:g.47416772G>C
  • NG_016192.1:g.5701G>C
  • NM_012186.3:c.457G>CMANE SELECT
  • NP_036318.1:p.Asp153His
  • NC_000001.10:g.47882444G>C
  • NM_012186.2:c.457G>C
Protein change:
D153H; ASP153HIS
Links:
OMIM: 601094.0007; dbSNP: rs367943249
NCBI 1000 Genomes Browser:
rs367943249
Molecular consequence:
  • NM_012186.3:c.457G>C - 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
SCV000882972University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedLikely pathogenic
(Feb 8, 2016)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PMC

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Investigators, National Heart, Lung, and Blood Institute (NHLBI) Grand Opportunity (GO) Exome Sequencing Project (ESP), Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM.

The Journal of Clinical Investigation. 2016 Feb 8; 126(3): 948-961

PMC [article]
PMCID:
PMC4767350
PMID:
26854927
DOI:
10.1172/JCI83778

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000882972.1

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

Last Updated: Sep 29, 2021

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