NM_153717.3(EVC):c.1128_1132del (p.His377fs) AND Ellis-van Creveld syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 14, 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:: RCV002307032.2

Allele description [Variation Report for NM_153717.3(EVC):c.1128_1132del (p.His377fs)]

NM_153717.3(EVC):c.1128_1132del (p.His377fs)

Gene:

EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4p16.2

Genomic location:

Preferred name:

NM_153717.3(EVC):c.1128_1132del (p.His377fs)

HGVS:

NC_000004.12:g.5752865_5752869del
NG_008843.1:g.46669_46673del
NG_008843.2:g.46666_46670del
NG_101986.1:g.22_26del
NM_001306090.2:c.1128_1132del
NM_001306092.2:c.1128_1132del
NM_153717.3:c.1128_1132delMANE SELECT
NP_001293019.1:p.His377fs
NP_001293021.1:p.His377fs
NP_714928.1:p.His377fs
NC_000004.11:g.5754592_5754596del

Protein change:

H377fs

Molecular consequence:

NM_001306090.2:c.1128_1132del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001306092.2:c.1128_1132del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_153717.3:c.1128_1132del - 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

Recent activity

Clear Turn Off Turn On

PREDICTED: Homo sapiens DEAH-box helicase 40 (DHX40), transcript variant X3, mRN...
PREDICTED: Homo sapiens DEAH-box helicase 40 (DHX40), transcript variant X3, mRNA
gi|2217313842|ref|XM_011525253.4|

Nucleotide
Medical History Taking
Medical History Taking
Acquiring information from a patient on past medical conditions and treatments.<br/>Year introduced: 1970(1967)

MeSH
Symptom Assessment
Symptom Assessment
Evaluation of manifestations of disease.<br/>Year introduced: 2013

MeSH
MMARC5_RS06850 [Methanococcus maripaludis C5]
MMARC5_RS06850 [Methanococcus maripaludis C5]
Gene ID:4928002

Gene
Surgical Clearance
Surgical Clearance
Process of evaluating the health of a patient and determining if they are healthy enough for surgery.<br/>Year introduced: 2016

MeSH

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
SCV002604129	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (May 14, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002604129

Myriad Genetics, Inc.

criteria provided, single submitter

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

Likely pathogenic
(May 14, 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., SCV002604129.2

#	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.1128_1132del5(H377Gfs*5) 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: Dec 24, 2022

ClinVar

Relating variation to medicine