NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) AND Capillary malformation-arteriovenous malformation 2

Clinical significance:Likely pathogenic (Last evaluated: Mar 29, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000722057.2

Allele description [Variation Report for NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly)]

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

Gene:
EPHB4:EPH receptor B4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly)
HGVS:
  • NC_000007.14:g.100806499T>C
  • NG_052671.1:g.26023A>G
  • NM_004444.5:c.2405A>GMANE SELECT
  • NP_004435.3:p.Asp802Gly
  • NC_000007.13:g.100404121T>C
  • NM_004444.4:c.2405A>G
Protein change:
D802G; ASP802GLY
Links:
OMIM: 600011.0003; dbSNP: rs776410552
NCBI 1000 Genomes Browser:
rs776410552
Molecular consequence:
  • NM_004444.5:c.2405A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Capillary malformation-arteriovenous malformation 2 (CMAVM2)
Identifiers:
MONDO: MONDO:0020785; MedGen: C4748670; OMIM: 618196

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000853237OMIMno assertion criteria providedPathogenic
(Nov 21, 2018)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000994943SIB Swiss Institute of Bioinformaticscriteria provided, single submitter
Likely pathogenic
(Mar 29, 2019)
unknowncuration

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedcuration
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.

Yu J, Streicher JL, Medne L, Krantz ID, Yan AC.

Pediatr Dermatol. 2017 Sep;34(5):e227-e230. doi: 10.1111/pde.13208. Epub 2017 Jul 21.

PubMed [citation]
PMID:
28730721

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000853237.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an 8-year-old white boy with multiple capillary malformations (CMAVM2; 618196), Yu et al. (2017) identified heterozygosity for a de novo c.2405A-G transition in the EPHB4 gene, resulting in an asp802-to-gly (D802G) substitution. His unaffected parents did not carry the mutation. The mutation was identified by whole-exome sequencing.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From SIB Swiss Institute of Bioinformatics, SCV000994943.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

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 extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM1: Located in a mutational hot spot and/or critical and well-established functional domain (e.g.,active site of an enzyme) without benign variation. PP3: Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM6: Assumed de novo, but without confirmation of paternity and maternity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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