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NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 10, 2021)
Last evaluated:
Apr 9, 2021
Accession:
VCV000133924.5
Variation ID:
133924
Description:
single nucleotide variant
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NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser)

Allele ID
137663
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 3770722 (GRCh38) GRCh38 UCSC
16: 3820723 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.3770722T>A
NC_000016.9:g.3820723T>A
NG_009873.1:g.114399A>T
... more HGVS
Protein change
T910S, T872S
Other names
-
Canonical SPDI
NC_000016.10:3770721:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
1000 Genomes Project 0.00060
Links
ClinGen: CA158166
dbSNP: rs143247685
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 Jan 16, 2014 RCV000120591.4
Likely benign 1 criteria provided, single submitter May 2, 2017 RCV000718603.1
Likely benign 1 criteria provided, single submitter Apr 9, 2021 RCV001557193.2
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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
(Jan 16, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202576.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(May 02, 2017)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000849467.3
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
Likely benign
(Apr 09, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001778912.1
Submitted: (Aug 10, 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: SCV000084745.1
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 rs143247685...

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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 Dec 04, 2021