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

Clinical significance:Likely pathogenic (Last evaluated: Dec 26, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000421839.1

Allele description [Variation Report for NM_004456.4(EZH2):c.1936T>A (p.Tyr646Asn)]

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

Gene:
EZH2:enhancer of zeste 2 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_004456.4(EZH2):c.1936T>A (p.Tyr646Asn)
HGVS:
  • NC_000007.14:g.148811636A>T
  • NG_032043.1:g.77714T>A
  • NM_001203247.2:c.1921T>A
  • NM_001203248.2:c.1894T>A
  • NM_001203249.2:c.1768T>A
  • NM_004456.4:c.1936T>A
  • NM_152998.3:c.1804T>A
  • NP_001190176.1:p.Tyr641Asn
  • NP_001190177.1:p.Tyr632Asn
  • NP_001190178.1:p.Tyr590Asn
  • NP_004447.2:p.Tyr646Asn
  • NP_694543.1:p.Tyr602Asn
  • LRG_531t1:c.1936T>A
  • LRG_531:g.77714T>A
  • LRG_531p1:p.Tyr646Asn
  • NC_000007.13:g.148508728A>T
Protein change:
Y590N
Links:
dbSNP: rs267601395
NCBI 1000 Genomes Browser:
rs267601395
Molecular consequence:
  • NM_001203247.2:c.1921T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001203248.2:c.1894T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001203249.2:c.1768T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004456.4:c.1936T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152998.3:c.1804T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lymphoma
Identifiers:
MONDO: MONDO:0005062; MeSH: D008223; MedGen: C0024299; Orphanet: 223735; Human Phenotype Ontology: HP:0002665

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000505306Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Dec 26, 2014)
somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells.

Knutson SK, Wigle TJ, Warholic NM, Sneeringer CJ, Allain CJ, Klaus CR, Sacks JD, Raimondi A, Majer CR, Song J, Scott MP, Jin L, Smith JJ, Olhava EJ, Chesworth R, Moyer MP, Richon VM, Copeland RA, Keilhack H, Pollock RM, Kuntz KW.

Nat Chem Biol. 2012 Nov;8(11):890-6. doi: 10.1038/nchembio.1084. Epub 2012 Sep 30.

PubMed [citation]
PMID:
23023262

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505306.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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