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NM_004444.5(EPHB4):c.2102T>G (p.Leu701Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 7, 2020)
Last evaluated:
May 15, 2020
Accession:
VCV000981954.1
Variation ID:
981954
Description:
single nucleotide variant
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NM_004444.5(EPHB4):c.2102T>G (p.Leu701Arg)

Allele ID
970059
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.1
Genomic location
7: 100812763 (GRCh38) GRCh38 UCSC
7: 100410385 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.100410385A>C
NC_000007.14:g.100812763A>C
NG_052671.1:g.19759T>G
NM_004444.5:c.2102T>G MANE Select NP_004435.3:p.Leu701Arg missense
Protein change
L701R
Other names
-
Canonical SPDI
NC_000007.14:100812762:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 15, 2020 RCV001261444.1
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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
Likely pathogenic
(May 15, 2020)
criteria provided, single submitter
Method: clinical testing
Capillary malformation-arteriovenous malformation 2
Allele origin: de novo
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
Accession: SCV001438741.1
Submitted: (Oct 07, 2020)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021