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NM_001429.4(EP300):c.4836dup (p.Val1613fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 15, 2015)
Last evaluated:
Dec 16, 2014
Accession:
VCV000210940.1
Variation ID:
210940
Description:
1bp duplication
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NM_001429.4(EP300):c.4836dup (p.Val1613fs)

Allele ID
208800
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
22q13.2
Genomic location
22: 41176303 (GRCh38) GRCh38 UCSC
22: 41572307 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.41572307dup
NC_000022.11:g.41176303dup
NM_001362843.2:c.4758dup NP_001349772.1:p.Val1587fs frameshift
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA277265
dbSNP: rs797045559
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Dec 16, 2014 RCV000194142.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EP300 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
400 421

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 16, 2014)
criteria provided, single submitter
Method: clinical testing
Rubinstein-Taybi syndrome 2
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000247296.1
Submitted: (Sep 15, 2015)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Dec 06, 2019