NM_001429.4(EP300):c.4452+5G>T AND Rubinstein-Taybi syndrome 2

Clinical significance:Likely pathogenic (Last evaluated: May 19, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000677692.1

Allele description [Variation Report for NM_001429.4(EP300):c.4452+5G>T]

NM_001429.4(EP300):c.4452+5G>T

Gene:
EP300:E1A binding protein p300 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
NM_001429.4(EP300):c.4452+5G>T
HGVS:
  • NC_000022.11:g.41170576G>T
  • NG_009817.1:g.82967G>T
  • NM_001362843.2:c.4374+5G>T
  • NM_001429.4:c.4452+5G>TMANE SELECT
  • LRG_1422t1:c.4452+5G>T
  • LRG_1422:g.82967G>T
  • NC_000022.10:g.41566580G>T
  • NM_001429.3:c.4452+5G>T
Links:
dbSNP: rs1555911334
NCBI 1000 Genomes Browser:
rs1555911334
Molecular consequence:
  • NM_001362843.2:c.4374+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001429.4:c.4452+5G>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Rubinstein-Taybi syndrome 2 (RSTS2)
Identifiers:
MONDO: MONDO:0013364; MedGen: C3150941; Orphanet: 783; OMIM: 613684

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000803839Equipe Genetique des Anomalies du Developpement, Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3criteria provided, single submitter
Likely pathogenic
(May 19, 2017)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3, SCV000803839.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 25, 2021

Support Center