NM_006079.5(CITED2):c.510_536del (p.163GSSTPGGSG[1]) AND Ventricular septal defect 2

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2005)
Review status:(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000007113.2

Allele description [Variation Report for NM_006079.5(CITED2):c.510_536del (p.163GSSTPGGSG[1])]

NM_006079.5(CITED2):c.510_536del (p.163GSSTPGGSG[1])

Genes:

LOC129997307:ATAC-STARR-seq lymphoblastoid silent region 17609 [Gene]
CITED2:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q24.1

Genomic location:

Preferred name:

NM_006079.5(CITED2):c.510_536del (p.163GSSTPGGSG[1])

HGVS:

NC_000006.12:g.139373435_139373461del
NG_016169.1:g.6214_6240del
NM_001168388.3:c.510_536del
NM_001168389.3:c.525_551del
NM_006079.5:c.510_536delMANE SELECT
NP_001161860.1:p.163GSSTPGGSG[1]
NP_001161861.2:p.168GSSTPGGSG[1]
NP_006070.2:p.163GSSTPGGSG[1]
NC_000006.11:g.139694572_139694598del
NM_006079.3:c.508_534del

Links:

OMIM: 602937.0001

Molecular consequence:

NM_001168388.3:c.510_536del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001168389.3:c.525_551del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_006079.5:c.510_536del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Ventricular septal defect 2 (VSD2)
Identifiers:: MONDO: MONDO:0013748; MedGen: C3280783; OMIM: 614431

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027309	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

SCV000027309

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, SCV000027309.1

#	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 perimembranous ventricular septal defect (VSD2; 614431), Sperling et al. (2005) identified heterozygosity for a 27-bp deletion (508_534del27) in exon 2 of the CITED2 gene, resulting in deletion of 9 amino acid residues (ser170_gly178del). The mutation was not found in 192 controls. Analysis of reporter gene transactivation and repression revealed that the 27-bp deletion reduced coactivation of the TFAP2C gene (601602) to 50% of that obtained with wildtype and repressed HIF1A (603348) with about 60% efficiency compared to 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: Oct 14, 2023

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