CITED2, 27-BP INS, NT534 AND Atrial septal defect 8

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2005
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:: RCV000007114.3

Allele description [Variation Report for CITED2, 27-BP INS, NT534]

CITED2, 27-BP INS, NT534

Gene:: CITED2:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 [Gene - OMIM - HGNC]
Variant type:: Insertion
Cytogenetic location:: 6q23.3
Preferred name:: CITED2, 27-BP INS, NT534
HGVS:: NM_006079.5:c.534_535ins27
This HGVS expression did not pass validation
Nucleotide change:: 27-BP INS, NT534
Protein change:: p.Gly178_Ser179ins9
Links:: OMIM: 602937.0002

Condition(s)

Name:: Atrial septal defect 8 (ASD8)
Identifiers:: MONDO: MONDO:0013750; MedGen: C3280790; Orphanet: 1478; OMIM: 614433

Recent activity

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transmembrane protein 39A isoform 2 [Mus musculus]
transmembrane protein 39A isoform 2 [Mus musculus]
gi|328683456|ref|NP_001192216.1|

Protein
PREDICTED: Mus musculus transmembrane protein 39a (Tmem39a), transcript variant ...
PREDICTED: Mus musculus transmembrane protein 39a (Tmem39a), transcript variant X1, mRNA
gi|1720387658|ref|XM_006522496.4|

Nucleotide
Mus musculus transmembrane protein 39a (Tmem39a), transcript variant 3, mRNA
Mus musculus transmembrane protein 39a (Tmem39a), transcript variant 3, mRNA
gi|328683455|ref|NM_001205287.1|

Nucleotide
MULTISPECIES: DUF5375 domain-containing protein [Enterobacteriaceae]
MULTISPECIES: DUF5375 domain-containing protein [Enterobacteriaceae]
gi|1883891966|ref|WP_181499006.1|

Protein
YetF domain-containing protein [Lelliottia amnigena]
YetF domain-containing protein [Lelliottia amnigena]
gi|2698858053|ref|WP_336993862.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027310	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 2005)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027310

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 2005)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.

Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S.

Hum Mutat. 2005 Dec;26(6):575-82.

PubMed [citation]

PMID:: 16287139

Details of each submission

From OMIM, SCV000027310.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with atrial septal defect (ASD8; 614433) of the secundum type, Sperling et al. (2005) demonstrated a 27-bp insertion in the CITED2 gene, resulting in insertion of 9 novel amino acids between gly178 and ser179. The mutation was not found in 192 controls. In a HIF1A (603348)-responsive reporter system, mutant CITED2 demonstrated only about 75% of the repressive activity of wildtype.

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

Last Updated: Jun 30, 2022

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