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NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del) AND Rubinstein-Taybi syndrome due to CREBBP mutations

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 4, 2017
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:
RCV000677660.2

Allele description [Variation Report for NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del)]

NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del)

Gene:
CREBBP:CREB binding protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del)
HGVS:
  • NC_000016.10:g.3736774_3736776del
  • NG_009873.2:g.148940_148942del
  • NM_001079846.1:c.4322_4324del
  • NM_004380.3:c.4436_4438delMANE SELECT
  • NP_001073315.1:p.Gly1441del
  • NP_004371.2:p.Gly1479del
  • LRG_1426t1:c.4436_4438del
  • LRG_1426:g.148940_148942del
  • LRG_1426p1:p.Gly1479del
  • NC_000016.9:g.3786775_3786777del
  • NG_009873.1:g.148347_148349del
  • NM_004380.2:c.4436_4438delGAG
Protein change:
G1441del
Links:
dbSNP: rs1555473122
NCBI 1000 Genomes Browser:
rs1555473122
Molecular consequence:
  • NM_001079846.1:c.4322_4324del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004380.3:c.4436_4438del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000803800Equipe Genetique des Anomalies du Developpement, Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 4, 2017) 		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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3, SCV000803800.1

#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