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NM_153717.3(EVC):c.2562-2A>G

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 8, 2018
Accession:
VCV000646416.1
Variation ID:
646416
Description:
single nucleotide variant
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NM_153717.3(EVC):c.2562-2A>G

Allele ID
651171
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.2
Genomic location
4: 5808199 (GRCh38) GRCh38 UCSC
4: 5809926 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.5809926A>G
NC_000004.12:g.5808199A>G
NG_008843.1:g.102003A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:5808198:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs1293098417
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 8, 2018 RCV000800691.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EVC - - GRCh38
GRCh37
927 1014

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Oct 08, 2018)
criteria provided, single submitter
Method: clinical testing
Curry-Hall syndrome
Chondroectodermal dysplasia
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000940421.1
Submitted: (Mar 28, 2019)
Publications:
PubMed (1)
PubMed: 23220543
Comment:
This sequence change affects an acceptor splice site in intron 17 of the EVC gene. It is expected to disrupt RNA splicing and likely results … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. D'Asdia MC European journal of medical genetics 2013 PMID: 23220543

Text-mined citations for rs1293098417...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021