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NM_004444.5(EPHB4):c.758G>A (p.Cys253Tyr) AND Capillary malformation-arteriovenous malformation 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 8, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004566502.1

Allele description [Variation Report for NM_004444.5(EPHB4):c.758G>A (p.Cys253Tyr)]

NM_004444.5(EPHB4):c.758G>A (p.Cys253Tyr)

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.758G>A (p.Cys253Tyr)
HGVS:
  • NC_000007.14:g.100822321C>T
  • NG_052671.1:g.10201G>A
  • NM_004444.5:c.758G>AMANE SELECT
  • NP_004435.3:p.Cys253Tyr
  • NC_000007.13:g.100419943C>T
Protein change:
C253Y
Molecular consequence:
  • NM_004444.5:c.758G>A - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005049543Clinical Genomics Laboratory, Washington University in St. Louis
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 8, 2024) 		somaticclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 Clinical Genomics Laboratory, Washington University in St. Louis, SCV005049543.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

An EPHB4 c.758G>A (p.Cys253Tyr) variant was identified at an allelic fraction consistent with somatic origin. This variant, to our knowledge, has not been reported in the medical literature. It occurs at a highly conserved base position in the cysteine rich domain. Computational predictors indicate that the variant is damaging, evidence that correlates with impact to EPHB4 function. Based on an internally-developed protocol informed by the ACMG/AMP guidelines (Richards S et al., PMID: 25741868) and gene-specific practices from the ClinGen Criteria Specification Registry, the clinical significance of the EPHB4 c.758G>A (p.Cys253Tyr) variant is uncertain at this time.

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

Last Updated: Jun 17, 2024