NM_153717.3(EVC):c.1099-167G>C AND Ellis-van Creveld syndrome

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 15, 2021
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:: RCV001527546.1

Allele description [Variation Report for NM_153717.3(EVC):c.1099-167G>C]

NM_153717.3(EVC):c.1099-167G>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.2

Genomic location:

Preferred name:

NM_153717.3(EVC):c.1099-167G>C

HGVS:

NC_000004.12:g.5752669G>C
NG_008843.1:g.46473G>C
NM_001306090.2:c.1099-167G>C
NM_001306092.2:c.1099-167G>C
NM_153717.3:c.1099-167G>CMANE SELECT
NC_000004.11:g.5754396G>C
NM_153717.2:c.1099-167G>C

Links:

dbSNP: rs6810769

NCBI 1000 Genomes Browser:

rs6810769

Molecular consequence:

NM_001306090.2:c.1099-167G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001306092.2:c.1099-167G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_153717.3:c.1099-167G>C - intron variant - [Sequence Ontology: SO:0001627]

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

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PREDICTED: Macaca mulatta chromobox 2 (CBX2), transcript variant X2, mRNA
PREDICTED: Macaca mulatta chromobox 2 (CBX2), transcript variant X2, mRNA
gi|1622881844|ref|XM_028836879.1|

Nucleotide
Thoracophelia mucronata voucher SIO_BIC A3409 28S ribosomal RNA gene, partial se...
Thoracophelia mucronata voucher SIO_BIC A3409 28S ribosomal RNA gene, partial sequence
gi|558096418|gb|KF511852.1|

Nucleotide
MCOLN1 mucolipin TRP cation channel 1 [Felis catus]
MCOLN1 mucolipin TRP cation channel 1 [Felis catus]
Gene ID:101097951

Gene
S100A7 [Sus scrofa]
S100A7 [Sus scrofa]
Gene ID:100144623

Gene
TCEAL9 transcription elongation factor A like 9 [Canis lupus familiaris]
TCEAL9 transcription elongation factor A like 9 [Canis lupus familiaris]
Gene ID:100682551

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001738630	Pars Genome Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jun 15, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001738630

Pars Genome Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jun 15, 2021)

germline

clinical testing

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	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Pars Genome Lab, SCV001738630.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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