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NM_004444.5(EPHB4):c.33del (p.Leu12fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 21, 2018)
Last evaluated:
Nov 21, 2018
Accession:
VCV000590870.1
Variation ID:
590870
Description:
1bp deletion
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NM_004444.5(EPHB4):c.33del (p.Leu12fs)

Allele ID
581811
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
7q22.1
Genomic location
7: 100826998 (GRCh38) GRCh38 UCSC
7: 100424620 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.100424620del
NC_000007.14:g.100826998del
NG_052671.1:g.5524del
... more HGVS
Protein change
L12fs
Other names
-
Canonical SPDI
NC_000007.14:100826997:C:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 600011.0004
dbSNP: rs1562976493
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Nov 21, 2018 RCV000722058.1
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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
SLC12A9 - - GRCh38
GRCh37
1 29

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 21, 2018)
no assertion criteria provided
Method: literature only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
Allele origin: germline
OMIM
Accession: SCV000853238.1
Submitted: (Nov 21, 2018)
Evidence details
Publications
PubMed (1)

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 rs1562976493...

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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