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NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
11
First in ClinVar:
Mar 8, 2017
Most recent Submission:
Mar 8, 2017
Last evaluated:
May 31, 2016
Accession:
VCV000376386.1
Variation ID:
376386
Description:
single nucleotide variant
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NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu)

Allele ID
363265
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 3738616 (GRCh38) GRCh38 UCSC
16: 3788617 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_004380.3:c.4337G>T MANE Select NP_004371.2:p.Arg1446Leu missense
NM_001079846.1:c.4223G>T NP_001073315.1:p.Arg1408Leu missense
NC_000016.10:g.3738616C>A
... more HGVS
Protein change
R1446L, R1408L
Other names
-
Canonical SPDI
NC_000016.10:3738615:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16602825
dbSNP: rs1057519884
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000418109.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000417475.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000422899.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000423976.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000428142.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000430512.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000434630.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000436449.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000438833.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000440084.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000441248.1
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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 		1722 1792

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
 Review status
(Assertion criteria)
 Condition
(Inheritance)
 Submitter More information
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505946.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000262367:c.4337G>T
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505950.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000262367:c.4337G>T
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
  • - None
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505948.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000262367:c.4337G>T
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505949.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000262367:c.4337G>T
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505947.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000262367:c.4337G>T
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505952.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000262367:c.4337G>T
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505953.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000262367:c.4337G>T
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505954.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000262367:c.4337G>T
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505951.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000262367:c.4337G>T
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505956.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000262367:c.4337G>T
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505955.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000262367:c.4337G>T

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
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
http://docm.genome.wustl.edu/variants/ENST00000262367:c.4337G>T - - - -

Text-mined citations for rs1057519884...

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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 Jul 29, 2023 

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