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NM_004380.3(CREBBP):c.6104del (p.Leu2035fs) AND Rubinstein-Taybi syndrome due to CREBBP mutations

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001252210.2

Allele description [Variation Report for NM_004380.3(CREBBP):c.6104del (p.Leu2035fs)]

NM_004380.3(CREBBP):c.6104del (p.Leu2035fs)

Gene:
CREBBP:CREB binding protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_004380.3(CREBBP):c.6104del (p.Leu2035fs)
HGVS:
  • NC_000016.10:g.3728944del
  • NG_009873.2:g.156771del
  • NM_001079846.1:c.5990del
  • NM_004380.3:c.6104delMANE SELECT
  • NP_001073315.1:p.Leu1997fs
  • NP_004371.2:p.Leu2035fs
  • LRG_1426t1:c.6104del
  • LRG_1426:g.156771del
  • LRG_1426p1:p.Leu2035fs
  • NC_000016.9:g.3778945del
  • NG_009873.1:g.156178del
  • NM_004380.2:c.6104del
Protein change:
L1997fs
Links:
dbSNP: rs2051830234
NCBI 1000 Genomes Browser:
rs2051830234
Molecular consequence:
  • NM_001079846.1:c.5990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004380.3:c.6104del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001427961Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
no assertion criteria provided
Pathogenic
(Jan 1, 2019) 		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 Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV001427961.1

#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