NM_001013703.4(EIF2AK4):c.2319+1G>A AND Familial pulmonary capillary hemangiomatosis

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000488727.2

Allele description [Variation Report for NM_001013703.4(EIF2AK4):c.2319+1G>A]

NM_001013703.4(EIF2AK4):c.2319+1G>A

Gene:

EIF2AK4:eukaryotic translation initiation factor 2 alpha kinase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

Preferred name:

NM_001013703.4(EIF2AK4):c.2319+1G>A

HGVS:

NC_000015.10:g.39978148G>A
NG_034053.1:g.49025G>A
NM_001013703.4:c.2319+1G>AMANE SELECT
NC_000015.9:g.40270349G>A
NM_001013703.3:c.2319+1G>A

Links:

dbSNP: rs1085307441

NCBI 1000 Genomes Browser:

rs1085307441

Molecular consequence:

NM_001013703.4:c.2319+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Familial pulmonary capillary hemangiomatosis (PVOD2)
Synonyms:: Pulmonary venoocclusive disease 2; Pulmonary venoocclusive disease 2, autosomal recessive
Identifiers:: MONDO: MONDO:0009329; MedGen: C0340848; Orphanet: 199241; OMIM: 234810

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000576374	Rare Disease Genomics Group, St George's University of London	no assertion criteria provided	Pathogenic	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000576374

Rare Disease Genomics Group, St George's University of London

no assertion criteria provided

Pathogenic

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.

Eyries M, Montani D, Girerd B, Perret C, Leroy A, Lonjou C, Chelghoum N, Coulet F, Bonnet D, Dorfmüller P, Fadel E, Sitbon O, Simonneau G, Tregouët DA, Humbert M, Soubrier F.

Nat Genet. 2014 Jan;46(1):65-9. doi: 10.1038/ng.2844. Epub 2013 Dec 1.

PubMed [citation]

PMID:: 24292273

Details of each submission

From Rare Disease Genomics Group, St George's University of London, SCV000576374.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine