NM_004385.5(VCAN):c.9265+1G>T AND Wagner syndrome

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: May 28, 2019
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:: RCV000203374.3

Allele description [Variation Report for NM_004385.5(VCAN):c.9265+1G>T]

NM_004385.5(VCAN):c.9265+1G>T

Genes:

VCAN-AS1:VCAN antisense RNA 1 [Gene - HGNC]
VCAN:versican [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.3

Genomic location:

Preferred name:

NM_004385.5(VCAN):c.9265+1G>T

HGVS:

NC_000005.10:g.83542269G>T
NG_012682.1:g.75559G>T
NM_001126336.3:c.1043-3268G>T
NM_001164097.2:c.6304+1G>T
NM_001164098.2:c.4004-3268G>T
NM_004385.5:c.9265+1G>TMANE SELECT
NC_000005.9:g.82838088G>T
NM_004385.4:c.9265+1G>T

Links:

dbSNP: rs80356553

NCBI 1000 Genomes Browser:

rs80356553

Molecular consequence:

NM_001126336.3:c.1043-3268G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001164098.2:c.4004-3268G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001164097.2:c.6304+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_004385.5:c.9265+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Wagner syndrome (WGN1)
Synonyms:: Wagner disease; Wagner vitreoretinal degeneration; Wagner syndrome type 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007740; MedGen: C1840452; Orphanet: 898; OMIM: 143200; Human Phenotype Ontology: HP:0030673

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000258538	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 16636652, 17035272, 19901218
SCV001136845	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000258538

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

SCV001136845

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of the genetic defect in the original Wagner syndrome family.

Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W.

Mol Vis. 2006 Apr 17;12:350-5.

PubMed [citation]

PMID:: 16636652

Clinical characterisation and molecular analysis of Wagner syndrome.

Meredith SP, Richards AJ, Flanagan DW, Scott JD, Poulson AV, Snead MP.

Br J Ophthalmol. 2007 May;91(5):655-9. Epub 2006 Oct 11.

PubMed [citation]

PMID:: 17035272
PMCID:: PMC1954774

See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000258538.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

#	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 Mendelics, SCV001136845.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 10, 2023

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