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NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 23, 2021)
Last evaluated:
May 21, 2021
Accession:
VCV000133933.7
Variation ID:
133933
Description:
single nucleotide variant
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NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr)

Allele ID
137672
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 3850335 (GRCh38) GRCh38 UCSC
16: 3900336 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.3850335C>T
NC_000016.9:g.3900336C>T
NG_009873.1:g.34786G>A
... more HGVS
Protein change
A254T
Other names
-
Canonical SPDI
NC_000016.10:3850334:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00085
1000 Genomes Project 0.00160
Exome Aggregation Consortium (ExAC) 0.00069
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Trans-Omics for Precision Medicine (TOPMed) 0.00063
The Genome Aggregation Database (gnomAD) 0.00051
The Genome Aggregation Database (gnomAD), exomes 0.00070
The Genome Aggregation Database (gnomAD) 0.00086
Links
ClinGen: CA158186
dbSNP: rs148781922
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Aug 13, 2015 RCV000120601.5
Likely benign 1 criteria provided, single submitter Sep 30, 2018 RCV000718594.1
Benign 1 criteria provided, single submitter Sep 11, 2020 RCV000871321.3
Likely benign 1 criteria provided, single submitter May 21, 2021 RCV001697046.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CREBBP Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
952 1009

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Aug 13, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000334126.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Sep 30, 2018)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000849458.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other data supporting benign classification;Subpopulation frequency in support of benign classification
Benign
(Sep 11, 2020)
criteria provided, single submitter
Method: clinical testing
Rubinstein-Taybi syndrome
Allele origin: germline
Invitae
Accession: SCV001012954.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 21, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000719222.2
Submitted: (Sep 23, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 24728327)
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000084759.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CREBBP - - - -

Text-mined citations for rs148781922...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021