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

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:
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; dbSNP: rs779637348
NCBI 1000 Genomes Browser:
rs779637348
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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027309OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2005) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

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

Last Updated: Dec 24, 2023