NM_001429.3(EP300):c.3857A>G AND Rubinstein-Taybi syndrome 2

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Nov 5, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000439427.3

Allele description [Variation Report for NM_001429.3(EP300):c.3857A>G]

NM_001429.3(EP300):c.3857A>G

Gene:
EP300:E1A binding protein p300 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
NM_001429.3(EP300):c.3857A>G
HGVS:
  • NC_000022.11:g.41166649A>G
  • NG_009817.1:g.79040A>G
  • NM_001362843.2:c.3779A>G
  • NM_001429.4:c.3857A>GMANE SELECT
  • NP_001349772.1:p.Asn1260Ser
  • NP_001420.2:p.Asn1286Ser
  • LRG_1422t1:c.3857A>G
  • LRG_1422:g.79040A>G
  • LRG_1422p1:p.Asn1286Ser
  • NC_000022.10:g.41562653A>G
  • NM_001429.3:c.3857A>G
  • p.(Asn1286Ser)
  • NM_001429.3:c.3857-A>G
Protein change:
N1260S; ASN1286SER
Links:
OMIM: 602700.0011; dbSNP: rs1555910821
NCBI 1000 Genomes Browser:
rs1555910821
Molecular consequence:
  • NM_001362843.2:c.3779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001429.4:c.3857A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000513411OMIMno assertion criteria providedPathogenic
(Feb 26, 2019)
germlineliterature only

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

SCV001189992Wessex Regional Genetics Laboratory,Salisbury District Hospitalno assertion criteria provided
Likely pathogenic
(Nov 5, 2019)
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
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M; DDD Study..

Clin Dysmorphol. 2016 Oct;25(4):135-45. doi: 10.1097/MCD.0000000000000143.

PubMed [citation]
PMID:
27465822

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 OMIM, SCV000513411.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

By direct sequencing of the EP300 gene in a 2-year-old boy (patient 9) with typical features of Rubinstein-Taybi syndrome-2 (RSTS2; 613684), Hamilton et al. (2016) identified a de novo heterozygous c.3857A-G transition (c.3857-A-G, NM_001429.3), resulting in an asn1286-to-ser (N1286S) substitution at a highly conserved residue.

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

From Wessex Regional Genetics Laboratory,Salisbury District Hospital, SCV001189992.1

#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: Nov 20, 2021

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