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

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Interpretation:
Likely pathogenic, risk factor​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: May 22, 2018)
Last evaluated:
Jan 6, 2018
Accession:
VCV000375651.2
Variation ID:
375651
Description:
single nucleotide variant
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NM_012186.3(FOXE3):c.457G>C (p.Asp153His)

Allele ID
362492
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p33
Genomic location
1: 47416772 (GRCh38) GRCh38 UCSC
1: 47882444 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.47882444G>C
NC_000001.11:g.47416772G>C
NG_016192.1:g.5701G>C
NM_012186.3:c.457G>C MANE Select NP_036318.1:p.Asp153His missense
Protein change
D153H
Other names
-
Canonical SPDI
NC_000001.11:47416771:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA16044411
OMIM: 601094.0007
dbSNP: rs367943249
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
risk factor 1 no assertion criteria provided Jan 6, 2018 RCV000417170.2
Likely pathogenic 1 no assertion criteria provided Feb 8, 2016 RCV000755150.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FOXE3 No evidence available No evidence available GRCh38
GRCh37
- 146
LINC01389 - - - GRCh38 - 138

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
risk factor
(Jan 06, 2018)
no assertion criteria provided
Method: literature only
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
Allele origin: germline
OMIM
Accession: SCV000494674.3
Submitted: (Feb 15, 2017)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Feb 08, 2016)
no assertion criteria provided
Method: research
Familial thoracic aortic aneurysms
Acute aortic dissections
(Autosomal dominant inheritance)
Allele origin: germline
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV000882972.1
Submitted: (May 22, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. Kuang SQ The Journal of clinical investigation 2016 PMID: 26854927
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. Kuang SQ The Journal of clinical investigation 2016 PMC4767350

Text-mined citations for rs367943249...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021