NM_147127.5(EVC2):c.3659+2T>C AND EVC2-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 30, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003922532.2

Allele description [Variation Report for NM_147127.5(EVC2):c.3659+2T>C]

NM_147127.5(EVC2):c.3659+2T>C

Gene:

EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.2

Genomic location:

Preferred name:

NM_147127.5(EVC2):c.3659+2T>C

HGVS:

NC_000004.12:g.5565256A>G
NG_015821.1:g.149293T>C
NG_015821.2:g.149292T>C
NM_001166136.2:c.3419+2T>C
NM_147127.5:c.3659+2T>CMANE SELECT
NC_000004.11:g.5566983A>G
NM_147127.4:c.3659+2T>C

Links:

dbSNP: rs200300612

NCBI 1000 Genomes Browser:

rs200300612

Molecular consequence:

NM_001166136.2:c.3419+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_147127.5:c.3659+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: EVC2-related disorder
Synonyms:: EVC2-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004749163	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Dec 30, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004749163

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Dec 30, 2023)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004749163.2

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

Description

The EVC2 c.3659+2T>C variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has been reported in multiple individuals with Ellis-van Creveld syndrome (Tompson et al. 2007. PubMed ID: 17024374; Sund et al. 2009. PubMed ID: 19251731; D'Asdia et al. 2013. PubMed ID: 23220543). This variant is reported in 0.0070% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Variants that disrupt the consensus splice donor site in EVC2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024

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