NM_147127.5(EVC2):c.3660del (p.Ser1220fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 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:: RCV001553071.3

Allele description [Variation Report for NM_147127.5(EVC2):c.3660del (p.Ser1220fs)]

NM_147127.5(EVC2):c.3660del (p.Ser1220fs)

Gene:

EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4p16.2

Genomic location:

Preferred name:

NM_147127.5(EVC2):c.3660del (p.Ser1220fs)

Other names:

AY185210.1:c.3660del

HGVS:

NC_000004.12:g.5563115del
NG_015821.1:g.151434del
NM_001166136.2:c.3420del
NM_147127.5:c.3660delMANE SELECT
NP_001159608.1:p.Ser1140fs
NP_667338.3:p.Ser1220fs
NC_000004.11:g.5564842del
NM_147127.4:c.3660del
NM_147127.4:c.3660delC
NM_147127.5:c.3660del

Protein change:

S1140fs

Links:

OMIM: 607261.0001; dbSNP: rs753581033

NCBI 1000 Genomes Browser:

rs753581033

Molecular consequence:

NM_001166136.2:c.3420del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_147127.5:c.3660del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001773875	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Mar 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001773875

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Mar 1, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001773875.1

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

Description

Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 89 amino acids are lost and replaced with 2 incorrect amino acids (Stenson et al., 2014); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31589614, 19810119, 17024374, 12571802, 19876929, 23220543)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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