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NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs) AND Ellis-van Creveld syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 4, 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:
RCV002309558.2

Allele description [Variation Report for NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs)]

NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs)

Gene:
EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
4p16.2
Genomic location:
Preferred name:
NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs)
HGVS:
  • NC_000004.12:g.5628593delinsAAAGA
  • NG_015821.1:g.85956delinsTCTTT
  • NG_015821.2:g.85955delinsTCTTT
  • NM_001166136.2:c.1612delinsTCTTT
  • NM_147127.5:c.1852delinsTCTTTMANE SELECT
  • NP_001159608.1:p.Ala538fs
  • NP_667338.3:p.Ala618fs
  • NC_000004.11:g.5630320delinsAAAGA
Protein change:
A538fs
Molecular consequence:
  • NM_001166136.2:c.1612delinsTCTTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_147127.5:c.1852delinsTCTTT - 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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002603435Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Feb 4, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002603435.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_147127.4(EVC2):c.1852del1ins5(A618Sfs*19) is expected to be pathogenic in the context of EVC2-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 EVC2, 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2022