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NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter) AND Rubinstein-Taybi syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 13, 2020
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:
RCV001384100.6

Allele description [Variation Report for NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter)]

NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter)

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.802G>T (p.Gly268Ter)
HGVS:
  • NC_000016.10:g.3810776C>A
  • NG_009873.2:g.74938G>T
  • NM_001079846.1:c.802G>T
  • NM_004380.3:c.802G>TMANE SELECT
  • NP_001073315.1:p.Gly268Ter
  • NP_004371.2:p.Gly268Ter
  • LRG_1426t1:c.802G>T
  • LRG_1426:g.74938G>T
  • LRG_1426p1:p.Gly268Ter
  • NC_000016.9:g.3860777C>A
  • NG_009873.1:g.74345G>T
Protein change:
G268*
Links:
dbSNP: rs2053923868
NCBI 1000 Genomes Browser:
rs2053923868
Molecular consequence:
  • NM_001079846.1:c.802G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004380.3:c.802G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Rubinstein-Taybi syndrome (RSTS)
Synonyms:
Broad thumb-hallux syndrome
Identifiers:
MONDO: MONDO:0019188; MedGen: C0035934; OMIM: PS180849

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001583485Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 13, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L.

BMC Med Genet. 2006 Oct 19;7:77.

PubMed [citation]
PMID:
17052327
PMCID:
PMC1626071

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA.

Am J Med Genet A. 2008 Oct 1;146A(19):2512-9. doi: 10.1002/ajmg.a.32424.

PubMed [citation]
PMID:
18792986
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001583485.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). This variant has not been reported in the literature in individuals with CREBBP-related conditions. This sequence change creates a premature translational stop signal (p.Gly268*) in the CREBBP gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Sep 29, 2024