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NM_147127.5(EVC2):c.826_827del (p.Gln276fs) AND Ellis-van Creveld syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 30, 2022
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:
RCV001822863.3

Allele description [Variation Report for NM_147127.5(EVC2):c.826_827del (p.Gln276fs)]

NM_147127.5(EVC2):c.826_827del (p.Gln276fs)

Gene:
EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
4p16.2
Genomic location:
Preferred name:
NM_147127.5(EVC2):c.826_827del (p.Gln276fs)
HGVS:
  • NC_000004.12:g.5681304GT[1]
  • NC_000004.12:g.5681304_5681305GT[1]
  • NG_015821.1:g.33243CA[1]
  • NM_001166136.2:c.586_587del
  • NM_147127.5:c.826_827delMANE SELECT
  • NP_001159608.1:p.Gln196fs
  • NP_667338.3:p.Gln276fs
  • NC_000004.11:g.5683030_5683031del
  • NC_000004.11:g.5683031GT[1]
  • NM_147127.4:c.826_827del
  • NM_147127.5:c.826_827delCAMANE SELECT
Protein change:
Q196fs
Links:
dbSNP: rs758841632
NCBI 1000 Genomes Browser:
rs758841632
Molecular consequence:
  • NM_001166136.2:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_147127.5:c.826_827del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002072467Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
no assertion criteria provided
Pathogenic
(Jan 30, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, SCV002072467.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian1not providednot providedclinical testingnot provided

Description

The homozygous frameshift deletion variant c.826_827delCA has an allele frequency-0.0004% n gnomAD (aggregated) database and 0.0008% in 1000g. In-silico bioinformatic software predict this variant by mutation taster as Disease causing. Phenotype observed was flat facies, short long bones, narrow thorax, postaxial polydactyly, spiked acetabula and bilateral club foot. Ellis-van Creveld is an autosomal recessive disorder. Based on the phenotypic observation, we classify this variant as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 7, 2025