NM_012193.4(FZD4):c.461A>G (p.His154Arg) AND Exudative vitreoretinopathy 1

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 14, 2018
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:: RCV000985230.2

Allele description [Variation Report for NM_012193.4(FZD4):c.461A>G (p.His154Arg)]

NM_012193.4(FZD4):c.461A>G (p.His154Arg)

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.461A>G (p.His154Arg)

HGVS:

NC_000011.10:g.86952295T>C
NG_011752.1:g.8097A>G
NM_012193.4:c.461A>GMANE SELECT
NP_036325.2:p.His154Arg
NC_000011.9:g.86663337T>C
NM_012193.3:c.461A>G
NR_120591.3:n.1658T>C
NR_120592.2:n.1407T>C

Protein change:

H154R

Links:

dbSNP: rs1334686841

NCBI 1000 Genomes Browser:

rs1334686841

Molecular consequence:

NM_012193.4:c.461A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_120591.3:n.1658T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_120592.2:n.1407T>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
SCV001133264	Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	no assertion criteria provided	Uncertain significance (Sep 26, 2019)	germline	clinical testing
SCV001527594	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 14, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001133264

Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

no assertion criteria provided

Uncertain significance
(Sep 26, 2019)

germline

clinical testing

SCV001527594

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 14, 2018)

unknown

clinical testing

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	clinical testing
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001133264.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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

From Baylor Genetics, SCV001527594.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Jul 29, 2023

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