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NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 21, 2019)
Last evaluated:
Mar 29, 2019
Accession:
VCV000691531.1
Variation ID:
691531
Description:
single nucleotide variant
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NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter)

Allele ID
679236
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.1
Genomic location
7: 100823666 (GRCh38) GRCh38 UCSC
7: 100421288 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.100421288C>T
NC_000007.14:g.100823666C>T
NG_052671.1:g.8856G>A
NM_004444.5:c.389G>A MANE Select NP_004435.3:p.Trp130Ter nonsense
Protein change
W130*
Other names
-
Canonical SPDI
NC_000007.14:100823665:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1584666961
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 29, 2019 RCV000852306.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EPHB4 - - GRCh38
GRCh37
112 141

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 29, 2019)
criteria provided, single submitter
Method: curation
Capillary malformation-arteriovenous malformation 2
Allele origin: unknown
SIB Swiss Institute of Bioinformatics
Accession: SCV000994938.1
Submitted: (Jun 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This variant is interpreted as a Pathogenic for Capillary malformation-arteriovenous malformation 2. The following ACMG Tag(s) were applied: PM2: Absent from controls (or at extremely … (more)

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
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Amyere M Circulation 2017 PMID: 28687708

Text-mined citations for rs1584666961...

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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 Oct 08, 2021