NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del) AND Rubinstein-Taybi syndrome due to CREBBP mutations

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 2022
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:: RCV002249839.1

Allele description [Variation Report for NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del)]

NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del)

Gene:

CREBBP:CREB binding protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del)

HGVS:

NC_000016.10:g.3729477_3729497del
NG_009873.2:g.156222_156242del
NM_001079846.1:c.5441_5461del
NM_004380.3:c.5555_5575delMANE SELECT
NP_001073315.1:p.Gln1814_Arg1820del
NP_004371.2:p.Gln1852_Arg1858del
LRG_1426t1:c.5555_5575del
LRG_1426:g.156222_156242del
LRG_1426p1:p.Gln1852_Arg1858del
NC_000016.10:g.3729472_3729492delGGCGGTGCTGGATCTGCTGCT
NC_000016.9:g.3779478_3779498del

Links:

dbSNP: rs2151309803

NCBI 1000 Genomes Browser:

rs2151309803

Molecular consequence:

NM_001079846.1:c.5441_5461del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004380.3:c.5555_5575del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002519444	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002519444

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV002519444.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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