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NM_004380.3(CREBBP):c.1280_1281del (p.Cys427fs) AND Rubinstein-Taybi syndrome due to CREBBP mutations

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2018
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:
RCV000754900.4

Allele description [Variation Report for NM_004380.3(CREBBP):c.1280_1281del (p.Cys427fs)]

NM_004380.3(CREBBP):c.1280_1281del (p.Cys427fs)

Gene:
CREBBP:CREB binding protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_004380.3(CREBBP):c.1280_1281del (p.Cys427fs)
HGVS:
  • NC_000016.10:g.3792031_3792032del
  • NG_009873.2:g.93683_93684del
  • NM_001079846.1:c.1216+1355_1216+1356del
  • NM_004380.3:c.1280_1281delMANE SELECT
  • NP_004371.2:p.Cys427fs
  • LRG_1426t1:c.1280_1281del
  • LRG_1426:g.93683_93684del
  • LRG_1426p1:p.Cys427fs
  • NC_000016.9:g.3842032_3842033del
  • NG_009873.1:g.93090_93091del
  • NM_004380.2:c.1279_1280delTG
Protein change:
C427fs
Links:
dbSNP: rs1567316655
NCBI 1000 Genomes Browser:
rs1567316655
Molecular consequence:
  • NM_004380.3:c.1280_1281del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001079846.1:c.1216+1355_1216+1356del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Rubinstein-Taybi syndrome due to CREBBP mutations
Synonyms:
Rubinstein syndrome; Broad thumbs and great toes, characteristic facies, and mental retardation; RUBINSTEIN-TAYBI SYNDROME 1, INCOMPLETE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008393; MedGen: C4551859; Orphanet: 783; OMIM: 180849

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000778555Center for Molecular Medicine, Children’s Hospital of Fudan University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 1, 2018) 		de novoclinical testing

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

Help

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 Center for Molecular Medicine, Children’s Hospital of Fudan University, SCV000778555.1

#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: Jun 23, 2024