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NM_004456.4(EZH2):c.1936T>A (p.Tyr646Asn)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
3 (Most recent: Jul 18, 2016)
Last evaluated:
May 31, 2016
Accession:
VCV000376217.1
Variation ID:
376217
Description:
single nucleotide variant
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NM_004456.4(EZH2):c.1936T>A (p.Tyr646Asn)

Allele ID
363096
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q36.1
Genomic location
7: 148811636 (GRCh38) GRCh38 UCSC
7: 148508728 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_531:g.77714T>A
NC_000007.13:g.148508728A>T
NC_000007.14:g.148811636A>T
... more HGVS
Protein change
Y646N, Y590N, Y632N, Y641N, Y602N
Other names
-
Canonical SPDI
NC_000007.14:148811635:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16602670
dbSNP: rs267601395
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 Dec 26, 2014 RCV000421839.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000429270.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000439496.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EZH2 - - GRCh38
GRCh37
249 314

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant melanoma of skin
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505304.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Dec 26, 2014)
no assertion criteria provided
Method: literature only
Lymphoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505306.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Lymphoma, Non-Hodgkin, Familial
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505305.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…

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
A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. Knutson SK Nature chemical biology 2012 PMID: 23023262
http://docm.genome.wustl.edu/variants/ENST00000320356:c.1936T>A - - - -

Text-mined citations for rs267601395...

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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 Oct 08, 2021