Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jun 21, 2019)
Last evaluated:
Mar 29, 2019
Accession:
VCV000590869.2
Variation ID:
590869
Description:
single nucleotide variant
Help

NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly)

Allele ID
581810
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.1
Genomic location
7: 100806499 (GRCh38) GRCh38 UCSC
7: 100404121 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.100404121T>C
NC_000007.14:g.100806499T>C
NG_052671.1:g.26023A>G
NM_004444.5:c.2405A>G MANE Select NP_004435.3:p.Asp802Gly missense
Protein change
D802G
Other names
-
Canonical SPDI
NC_000007.14:100806498:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
OMIM: 600011.0003
dbSNP: rs776410552
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Mar 29, 2019 RCV000722057.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 29, 2019)
criteria provided, single submitter
Method: curation
Capillary malformation-arteriovenous malformation 2
Allele origin: unknown
SIB Swiss Institute of Bioinformatics
Accession: SCV000994943.1
Submitted: (Jun 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This variant is interpreted as a Likely pathogenic for Capillary malformation-arteriovenous malformation 2. The following ACMG Tag(s) were applied: PM2-Supporting: Absent from controls (or at … (more)
Pathogenic
(Nov 21, 2018)
no assertion criteria provided
Method: literature only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
Allele origin: germline
OMIM
Accession: SCV000853237.1
Submitted: (Nov 21, 2018)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. Yu J Pediatric dermatology 2017 PMID: 28730721

Text-mined citations for rs776410552...

Help
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