NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly) AND Rubinstein-Taybi syndrome due to CREBBP mutations

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 9, 2023
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:: RCV003484589.2

Allele description [Variation Report for NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)]

NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)

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.4090A>G (p.Ser1364Gly)

HGVS:

NC_000016.10:g.3740442T>C
NG_009873.2:g.145272A>G
NM_001079846.1:c.3976A>G
NM_004380.3:c.4090A>GMANE SELECT
NP_001073315.1:p.Ser1326Gly
NP_004371.2:p.Ser1364Gly
LRG_1426t1:c.4090A>G
LRG_1426:g.145272A>G
LRG_1426p1:p.Ser1364Gly
NC_000016.9:g.3790443T>C
NM_004380.2:c.4090A>G

Protein change:

S1326G

Molecular consequence:

NM_001079846.1:c.3976A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004380.3:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004229148	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Uncertain significance (Nov 9, 2023)	inherited	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004229148

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Uncertain significance
(Nov 9, 2023)

inherited

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV004229148.1

#	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	inherited	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 5, 2024

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