U.S. flag

An official website of the United States government

NM_001386298.1(CIC):c.3017_3018insT (p.Gly1008fs) AND Oligodendroglioma

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 21, 2019
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:
RCV000786027.1

Allele description [Variation Report for NM_001386298.1(CIC):c.3017_3018insT (p.Gly1008fs)]

NM_001386298.1(CIC):c.3017_3018insT (p.Gly1008fs)

Gene:
CIC:capicua transcriptional repressor [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_001386298.1(CIC):c.3017_3018insT (p.Gly1008fs)
HGVS:
  • NC_000019.10:g.42287078_42287079insT
  • NG_042060.1:g.23542_23543insT
  • NM_001304815.2:c.3017_3018insT
  • NM_001379480.1:c.3017_3018insT
  • NM_001379482.1:c.3017_3018insT
  • NM_001379484.1:c.290_291insT
  • NM_001379485.1:c.290_291insT
  • NM_001386298.1:c.3017_3018insTMANE SELECT
  • NM_015125.5:c.290_291insT
  • NP_001291744.1:p.Gly1008fs
  • NP_001366409.1:p.Gly1008fs
  • NP_001366411.1:p.Gly1008fs
  • NP_001366413.1:p.Gly99fs
  • NP_001366414.1:p.Gly99fs
  • NP_001373227.1:p.Gly1008fs
  • NP_055940.3:p.Gly99fs
  • NP_055940.3:p.Gly99fs
  • LRG_999t1:c.290_291insT
  • LRG_999:g.23542_23543insT
  • LRG_999p1:p.Gly99fs
  • NC_000019.9:g.42791230_42791231insT
  • NM_015125.4:c.290_291insT
Protein change:
G1008fs
Links:
dbSNP: rs1568503055
NCBI 1000 Genomes Browser:
rs1568503055
Molecular consequence:
  • NM_001304815.2:c.3017_3018insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379480.1:c.3017_3018insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379482.1:c.3017_3018insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379484.1:c.290_291insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379485.1:c.290_291insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386298.1:c.3017_3018insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015125.5:c.290_291insT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Oligodendroglioma
Identifiers:
MONDO: MONDO:0016695; MeSH: D009837; MedGen: C0028945; Human Phenotype Ontology: HP:0033681

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000924568Genome Sciences Centre, British Columbia Cancer Agency
no assertion criteria provided
Likely pathogenic
(May 21, 2019) 		somaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Genome Sciences Centre, British Columbia Cancer Agency, SCV000924568.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022