NM_014515.7(CNOT2):c.48+8340_48+9761del AND Normal pregnancy

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000161683.3

Allele description [Variation Report for NM_014515.7(CNOT2):c.48+8340_48+9761del]

NM_014515.7(CNOT2):c.48+8340_48+9761del

Gene:

CNOT2:CCR4-NOT transcription complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q15

Genomic location:

Preferred name:

NM_014515.7(CNOT2):c.48+8340_48+9761del

HGVS:

NC_000012.12:g.70286614_70288035del
NM_001199302.2:c.48+8340_48+9761del
NM_001199303.2:c.48+8340_48+9761del
NM_014515.7:c.48+8340_48+9761delMANE SELECT
NC_000012.11:g.70680394_70681815del

Molecular consequence:

NM_001199302.2:c.48+8340_48+9761del - intron variant - [Sequence Ontology: SO:0001627]
NM_001199303.2:c.48+8340_48+9761del - intron variant - [Sequence Ontology: SO:0001627]
NM_014515.7:c.48+8340_48+9761del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Normal pregnancy
Identifiers:: MedGen: C0232989

Recent activity

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SNAP47 AND (alive[prop]) (853)
Gene
Uroporphyrinogen III synthase HEM4 [Oceanithermus profundus DSM 14977]
Uroporphyrinogen III synthase HEM4 [Oceanithermus profundus DSM 14977]
gi|313153191|gnl|jgi|Ocepr_1589|gb| 042.1|

Protein
beta-ketothiolase [Burkholderia plantarii]
beta-ketothiolase [Burkholderia plantarii]
gi|755897235|gnl|goetting|BGL_1c217 |AJK46686.1|

Protein
RecName: Full=Triokinase/FMN cyclase; AltName: Full=Bifunctional ATP-dependent d...
RecName: Full=Triokinase/FMN cyclase; AltName: Full=Bifunctional ATP-dependent dihydroxyacetone kinase/FAD-AMP lyase (cyclizing); Includes: RecName: Full=ATP-dependent dihydroxyacetone kinase; Short=DHA kinase; AltName: Full=Glycerone kinase; AltName: Full=Triokinase; AltName: Full=Triose kinase; Includes: RecName: Full=FAD-AMP lyase (cyclizing); AltName: Full=FAD-AMP lyase (cyclic FMN forming); AltName: Full=FMN cyclase
gi|81879195|sp|Q8VC30.1|TKFC_MOUSE

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000191640	Institute of Molecular and Cell Biology, University of Tartu - Kasak2014	no classification provided	not provided	unknown	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000191640

Institute of Molecular and Cell Biology, University of Tartu - Kasak2014

no classification provided

not provided

unknown

case-control

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	case-control

Citations

PubMed

Extensive load of somatic CNVs in the human placenta.

Kasak L, Rull K, Vaas P, Teesalu P, Laan M.

Sci Rep. 2015 Feb 10;5:8342. doi: 10.1038/srep08342.

PubMed [citation]

PMID:: 25666259
PMCID:: PMC4914949

Details of each submission

From Institute of Molecular and Cell Biology, University of Tartu - Kasak2014, SCV000191640.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	PubMed (1)
2	not provided	not provided	not provided	not provided	case-control	PubMed (1)

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

Last Updated: Jun 23, 2024

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Relating variation to medicine