NM_021147.5(CCNO):c.258_262dup (p.Gln88fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 26, 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:: RCV000598772.9

Allele description [Variation Report for NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)]

NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)

Genes:

LOC129993895:ATAC-STARR-seq lymphoblastoid silent region 16013 [Gene]
CCNO:cyclin O [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

5q11.2

Genomic location:

Preferred name:

NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)

HGVS:

NC_000005.10:g.55233261_55233262insGGGCC
NC_000005.10:g.55233266CGGGC[3]
NG_034201.1:g.5447GGCCC[3]
NM_021147.5:c.258_262dupMANE SELECT
NP_066970.3:p.Gln88fs
NC_000005.9:g.54529089_54529090insGGGCC
NC_000005.9:g.54529094CGGGC[3]
NM_021147.4:c.258_262dup
NM_021147.4:c.258_262dupGGCCC
NP_066970.3:p.Gln88ArgfsTer8
NR_125346.2:n.338GGCCC[3]
NR_125347.2:n.338GGCCC[3]

Protein change:

Q88fs

Links:

OMIM: 607752.0002; dbSNP: rs587777499

NCBI 1000 Genomes Browser:

rs587777499

Molecular consequence:

NM_021147.5:c.258_262dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_125346.2:n.338GGCCC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_125347.2:n.338GGCCC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

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
SCV000710445	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Feb 26, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000710445

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Feb 26, 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, SCV000710445.3

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 20301301, 28199173, 30067075, 28801648, 24747639, 26777464, 24824133, 32622824, 31980526, 33577779)

#	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: Jun 23, 2024

ClinVar

Relating variation to medicine