NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs) AND Ellis-van Creveld syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 23, 2022
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:: RCV002309138.2

Allele description [Variation Report for NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs)]

NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs)

Genes:

LOC129992144:ATAC-STARR-seq lymphoblastoid silent region 15223 [Gene]
EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

4p16.2

Genomic location:

Preferred name:

NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs)

HGVS:

NC_000004.12:g.5711388_5711389insTGCTGCTGAGTGT
NG_008843.2:g.5189_5190insTGCTGCTGAGTGT
NG_015821.2:g.3159_3160insACACTCAGCAGCA
NM_001306090.2:c.8_9insTGCTGCTGAGTGT
NM_001306092.2:c.8_9insTGCTGCTGAGTGT
NM_153717.3:c.8_9insTGCTGCTGAGTGTMANE SELECT
NP_001293019.1:p.Gly4fs
NP_001293021.1:p.Gly4fs
NP_714928.1:p.Gly4fs
NC_000004.11:g.5713115_5713116insTGCTGCTGAGTGT
NG_008843.1:g.5192_5193insTGCTGCTGAGTGT
NG_015821.1:g.3160_3161insACACTCAGCAGCA

Protein change:

G4fs

Molecular consequence:

NM_001306090.2:c.8_9insTGCTGCTGAGTGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001306092.2:c.8_9insTGCTGCTGAGTGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_153717.3:c.8_9insTGCTGCTGAGTGT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002602947	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Mar 23, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002602947

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Mar 23, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002602947.2

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

Description

NM_153717.2(EVC):c.8_9ins13(G4Afs*73) is expected to be pathogenic in the context of EVC-related Ellis-van Creveld syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in EVC, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#	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: Oct 14, 2023

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