NM_012193.4(FZD4):c.1024A>G (p.Met342Val) AND Exudative vitreoretinopathy 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 2004
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:: RCV000005822.3

Allele description [Variation Report for NM_012193.4(FZD4):c.1024A>G (p.Met342Val)]

NM_012193.4(FZD4):c.1024A>G (p.Met342Val)

Genes:

FZD4:frizzled class receptor 4 [Gene - OMIM - HGNC]
PRSS23:serine protease 23 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q14.2

Genomic location:

Preferred name:

NM_012193.4(FZD4):c.1024A>G (p.Met342Val)

HGVS:

NC_000011.10:g.86951732T>C
NG_011752.1:g.8660A>G
NM_012193.4:c.1024A>GMANE SELECT
NP_036325.2:p.Met342Val
NC_000011.9:g.86662774T>C
NR_120591.3:n.1095T>C
NR_120592.2:n.844T>C
Q9ULV1:p.Met342Val

Protein change:

M342V; MET342VAL

Links:

UniProtKB: Q9ULV1#VAR_063934; OMIM: 604579.0004; dbSNP: rs80358293

NCBI 1000 Genomes Browser:

rs80358293

Molecular consequence:

NM_012193.4:c.1024A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_120591.3:n.1095T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_120592.2:n.844T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Exudative vitreoretinopathy 1 (EVR1)
Synonyms:: Criswick-Schepens syndrome; FEVR, AUTOSOMAL DOMINANT; Familial exudative vitreoretinopathy, autosomal dominant
Identifiers:: MONDO: MONDO:0007589; MedGen: C1851402; Orphanet: 891; Orphanet: 90050; OMIM: 133780

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026004	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2004)	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

SCV000026004

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2004)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.

Yoshida S, Arita R, Yoshida A, Tada H, Emori A, Noda Y, Nakao S, Fujisawa K, Ishibashi T.

Am J Ophthalmol. 2004 Oct;138(4):670-1.

PubMed [citation]

PMID:: 15488808

Details of each submission

From OMIM, SCV000026004.2

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

Description

In a Japanese girl with exudative vitreoretinopathy (EVR1; 133780), Yoshida et al. (2004) identified a heterozygous 1026A-G transition in the FZD4 gene, resulting in a met342-to-val (M342V) substitution. She had esotropia and exudative retinal detachment at age 3 years. Her asymptomatic father, who also carried the mutation, was found to have bilateral avascular areas in the peripheral retina.

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

Last Updated: Feb 20, 2024

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