NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter) AND Capillary malformation-arteriovenous malformation 2

Clinical significance:Pathogenic (Last evaluated: Mar 29, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000852306.1

Allele description [Variation Report for NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter)]

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

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.389G>A (p.Trp130Ter)
HGVS:
  • NC_000007.14:g.100823666C>T
  • NG_052671.1:g.8856G>A
  • NM_004444.5:c.389G>AMANE SELECT
  • NP_004435.3:p.Trp130Ter
  • NC_000007.13:g.100421288C>T
Protein change:
W130*
Links:
dbSNP: rs1584666961
NCBI 1000 Genomes Browser:
rs1584666961
Molecular consequence:
  • NM_004444.5:c.389G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000994938SIB Swiss Institute of Bioinformaticscriteria provided, single submitter
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

Citations

PubMed

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, et al.

Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7.

PubMed [citation]
PMID:
28687708

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 SIB Swiss Institute of Bioinformatics, SCV000994938.1

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

Description

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 low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1: Predicted nullvariant in a gene where LOF is a known mechanism of disease. 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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