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NM_006079.5(CITED2):c.608C>T (p.Ala203Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 2023
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:
RCV003276149.2

Allele description [Variation Report for NM_006079.5(CITED2):c.608C>T (p.Ala203Val)]

NM_006079.5(CITED2):c.608C>T (p.Ala203Val)

Gene:
CITED2:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q24.1
Genomic location:
Preferred name:
NM_006079.5(CITED2):c.608C>T (p.Ala203Val)
HGVS:
  • NC_000006.12:g.139373337G>A
  • NG_016169.1:g.6312C>T
  • NG_176753.1:g.81G>A
  • NM_001168388.3:c.608C>T
  • NM_001168389.3:c.623C>T
  • NM_006079.5:c.608C>TMANE SELECT
  • NP_001161860.1:p.Ala203Val
  • NP_001161861.2:p.Ala208Val
  • NP_006070.2:p.Ala203Val
  • NC_000006.11:g.139694474G>A
  • NM_006079.3:c.608C>T
Protein change:
A203V
Molecular consequence:
  • NM_001168388.3:c.608C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001168389.3:c.623C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006079.5:c.608C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003960955Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 7, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003960955.2

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

Description

The c.608C>T (p.A203V) alteration is located in exon 2 (coding exon 1) of the CITED2 gene. This alteration results from a C to T substitution at nucleotide position 608, causing the alanine (A) at amino acid position 203 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024