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NM_012193.3(FZD4):c.1479_1484delGTGGAT (p.Met493_Trp494del)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Apr 16, 2018
Accession:
VCV000005484.2
Variation ID:
5484
Description:
6bp deletion
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NM_012193.3(FZD4):c.1479_1484delGTGGAT (p.Met493_Trp494del)

Allele ID
20523
Variant type
Deletion
Variant length
6 bp
Cytogenetic location
11q14.2
Genomic location
11: 86951272-86951277 (GRCh38) GRCh38 UCSC
11: 86662314-86662319 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.86951272_86951277delATCCAC
NC_000011.9:g.86662314_86662319delATCCAC
NM_012193.3:c.1479_1484delGTGGAT NP_036325.2:p.Met493_Trp494del
NG_011752.1:g.9115_9120delGTGGAT
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 604579.0001
dbSNP: rs80358301
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Apr 16, 2018 RCV000478323.1
Pathogenic 1 no assertion criteria provided Oct 1, 2002 RCV000005818.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FZD4 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
10 130
PRSS23 - - GRCh38
GRCh37
- 119

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 16, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000566543.5
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.1479_1484delGTGGAT variant has been published as a pathogenic variant in a large extended family diagnosed with autosomal dominant (Robitaille et al., 2002). In vitro ... (more)
Pathogenic
(Oct 01, 2002)
no assertion criteria provided
Method: literature only
EXUDATIVE VITREORETINOPATHY 1
Allele origin: germline
OMIM
Accession: SCV000026000.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Robitaille J Nature genetics 2002 PMID: 12172548

Record last updated Jun 17, 2019