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NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter) AND Rubinstein-Taybi syndrome due to CREBBP mutations

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 13, 2017
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:
RCV000503664.1

Allele description [Variation Report for NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter)]

NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter)

Gene:
CREBBP:CREB binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter)
HGVS:
  • NC_000016.10:g.3728772G>C
  • NG_009873.1:g.156349C>G
  • NG_009873.2:g.156942C>G
  • NM_001079846.1:c.6161C>G
  • NM_004380.3:c.6275C>GMANE SELECT
  • NP_001073315.1:p.Ser2054Ter
  • NP_004371.2:p.Ser2092Ter
  • NP_004371.2:p.Ser2092Ter
  • LRG_1426t1:c.6275C>G
  • LRG_1426:g.156942C>G
  • LRG_1426p1:p.Ser2092Ter
  • NC_000016.9:g.3778773G>C
  • NM_004380.2:c.6275C>G
Protein change:
S2054*
Links:
dbSNP: rs1555471077
NCBI 1000 Genomes Browser:
rs1555471077
Molecular consequence:
  • NM_001079846.1:c.6161C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004380.3:c.6275C>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000590939Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
no assertion criteria provided

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 13, 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 Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals, SCV000590939.1

#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: Apr 23, 2022