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NM_001386298.1(CIC):c.4031_4033del (p.Thr1344del) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 19, 2019
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:
RCV001767575.2

Allele description [Variation Report for NM_001386298.1(CIC):c.4031_4033del (p.Thr1344del)]

NM_001386298.1(CIC):c.4031_4033del (p.Thr1344del)

Gene:
CIC:capicua transcriptional repressor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_001386298.1(CIC):c.4031_4033del (p.Thr1344del)
HGVS:
  • NC_000019.10:g.42289350_42289352del
  • NG_042060.1:g.25814_25816del
  • NM_001304815.2:c.4031_4033del
  • NM_001379480.1:c.4031_4033del
  • NM_001379482.1:c.4031_4033del
  • NM_001379484.1:c.1304_1306del
  • NM_001379485.1:c.1304_1306del
  • NM_001386298.1:c.4031_4033delMANE SELECT
  • NM_015125.5:c.1304_1306del
  • NP_001291744.1:p.Thr1344del
  • NP_001366409.1:p.Thr1344del
  • NP_001366411.1:p.Thr1344del
  • NP_001366413.1:p.Thr435del
  • NP_001366414.1:p.Thr435del
  • NP_001373227.1:p.Thr1344del
  • NP_055940.3:p.Thr435del
  • LRG_999:g.25814_25816del
  • NC_000019.9:g.42793502_42793504del
  • NM_015125.3:c.1304_1306del
Protein change:
T1344del
Links:
dbSNP: rs2037903760
NCBI 1000 Genomes Browser:
rs2037903760
Molecular consequence:
  • NM_001304815.2:c.4031_4033del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001379480.1:c.4031_4033del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001379482.1:c.4031_4033del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001379484.1:c.1304_1306del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001379485.1:c.1304_1306del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001386298.1:c.4031_4033del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_015125.5:c.1304_1306del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001998450GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 19, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001998450.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Dec 24, 2023