NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) AND Ellis-van Creveld syndrome

Germline classification:: Pathogenic/Likely pathogenic (5 submissions)
Last evaluated:: Jun 1, 2017
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:: RCV000003550.11

Allele description [Variation Report for NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)]

NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)

Genes:

LOC126806961:BRD4-independent group 4 enhancer GRCh37_chr4:5641443-5642642 [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.1195C>T (p.Arg399Ter)

HGVS:

NC_000004.12:g.5640789G>A
NG_015821.1:g.73760C>T
NM_001166136.2:c.955C>T
NM_147127.5:c.1195C>TMANE SELECT
NP_001159608.1:p.Arg319Ter
NP_667338.3:p.Arg399Ter
NC_000004.11:g.5642516G>A
NM_147127.4:c.1195C>T

Protein change:

R319*; ARG399TER

Links:

OMIM: 607261.0004; dbSNP: rs137852924

NCBI 1000 Genomes Browser:

rs137852924

Molecular consequence:

NM_001166136.2:c.955C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_147127.5:c.1195C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Ellis-van Creveld syndrome (EVC)
Synonyms:: Chondroectodermal dysplasia; Mesoectodermal dysplasia
Identifiers:: MONDO: MONDO:0009162; MedGen: C0013903; Orphanet: 289; OMIM: 225500

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023708	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000612086	Dan Cohn Lab, University Of California Los Angeles	no assertion criteria provided	Pathogenic (Jun 1, 2017)	biparental	research	PubMed (1) [See all records that cite this PMID]
SCV000791341	Counsyl	no assertion criteria provided	Pathogenic (May 8, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21199751, 22190900
SCV001479600	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	inherited	research	PubMed (1) [See all records that cite this PMID]
SCV004037445	Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital	no assertion criteria provided	Pathogenic	paternal	literature only	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	biparental	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	not provided	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
not provided	paternal	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA.

Am J Hum Genet. 2003 Mar;72(3):728-32. Epub 2003 Feb 4.

PubMed [citation]

PMID:: 12571802
PMCID:: PMC1180248

Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling.

Chen CP, Su YN, Hsu CY, Chern SR, Tsai FJ, Wu PC, Chen PT, Wang W.

Taiwan J Obstet Gynecol. 2010 Dec;49(4):481-6. doi: 10.1016/S1028-4559(10)60101-5.

PubMed [citation]

PMID:: 21199751

See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000023708.2

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

Description

In a stillborn child with Ellis-van Creveld syndrome (225500) who had ventricular septal defect and short limbs with postaxial polydactyly of the hands and radiographic features typical of EVC, with short limbs and classic pelvic configuration, Ruiz-Perez et al. (2003) found an 1195C-T transition in exon 10 of the EVC2 gene that introduced a nonsense codon (arg399 to stop).

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

From Dan Cohn Lab, University Of California Los Angeles, SCV000612086.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

From Counsyl, SCV000791341.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479600.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

From Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital, SCV004037445.1

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

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine