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NM_001429.4(EP300):c.2998-3_2998-2del AND Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 22, 2022
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:
RCV002251178.1

Allele description [Variation Report for NM_001429.4(EP300):c.2998-3_2998-2del]

NM_001429.4(EP300):c.2998-3_2998-2del

Genes:
LOC126863158:BRD4-independent group 4 enhancer GRCh37_chr22:41547383-41548582 [Gene]
EP300:E1A binding protein p300 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
NM_001429.4(EP300):c.2998-3_2998-2del
HGVS:
  • NC_000022.11:g.41152203_41152204del
  • NG_009817.1:g.64594_64595del
  • NM_001362843.2:c.2920-3_2920-2del
  • NM_001429.4:c.2998-3_2998-2delMANE SELECT
  • LRG_1422t1:c.2998-3_2998-2del
  • LRG_1422:g.64594_64595del
  • NC_000022.10:g.41548207_41548208del
Links:
dbSNP: rs2145740556
NCBI 1000 Genomes Browser:
rs2145740556
Molecular consequence:
  • NM_001362843.2:c.2920-3_2920-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001429.4:c.2998-3_2998-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Synonyms:
Rubinstein-Taybi syndrome 2
Identifiers:
MONDO: MONDO:0013364; MedGen: C3150941; Orphanet: 783; OMIM: 613684

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0025216633billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 22, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not 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 3billion, SCV002521663.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024