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NM_012193.4(FZD4):c.1273del (p.Thr425fs) AND Exudative vitreoretinopathy 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 22, 2022
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:
RCV002285090.2

Allele description [Variation Report for NM_012193.4(FZD4):c.1273del (p.Thr425fs)]

NM_012193.4(FZD4):c.1273del (p.Thr425fs)

Genes:
FZD4:frizzled class receptor 4 [Gene - OMIM - HGNC]
PRSS23:serine protease 23 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q14.2
Genomic location:
Preferred name:
NM_012193.4(FZD4):c.1273del (p.Thr425fs)
HGVS:
  • NC_000011.10:g.86951483del
  • NG_011752.2:g.8912del
  • NM_012193.4:c.1273delMANE SELECT
  • NP_036325.2:p.Thr425fs
  • NC_000011.9:g.86662525del
  • NG_011752.1:g.8909del
  • NR_120591.3:n.846del
  • NR_120592.2:n.595del
Protein change:
T425fs
Molecular consequence:
  • NM_012193.4:c.1273del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_120591.3:n.846del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_120592.2:n.595del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002574832Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 22, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not 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 Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, SCV002574832.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1Bloodnot provided1not providednot providednot provided

Last Updated: Jun 23, 2024