NM_004456.4(EZH2):c.1876G>A (p.Val626Met) AND Weaver syndrome

Clinical significance:Pathogenic (Last evaluated: Apr 9, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000145972.1

Allele description [Variation Report for NM_004456.4(EZH2):c.1876G>A (p.Val626Met)]

NM_004456.4(EZH2):c.1876G>A (p.Val626Met)

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.1876G>A (p.Val626Met)
HGVS:
  • NC_000007.14:g.148811696C>T
  • NG_032043.1:g.77654G>A
  • NM_001203247.2:c.1861G>A
  • NM_001203248.2:c.1834G>A
  • NM_001203249.2:c.1708G>A
  • NM_004456.4:c.1876G>A
  • NM_152998.3:c.1744G>A
  • NP_001190176.1:p.Val621Met
  • NP_001190177.1:p.Val612Met
  • NP_001190178.1:p.Val570Met
  • NP_004447.2:p.Val626Met
  • NP_694543.1:p.Val582Met
  • LRG_531t1:c.1876G>A
  • LRG_531:g.77654G>A
  • LRG_531p1:p.Val626Met
  • NC_000007.13:g.148508788C>T
Protein change:
V570M
Links:
dbSNP: rs587783625
NCBI 1000 Genomes Browser:
rs587783625
Molecular consequence:
  • NM_001203247.2:c.1861G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001203248.2:c.1834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001203249.2:c.1708G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004456.4:c.1876G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152998.3:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Weaver syndrome (WVS)
Identifiers:
MedGen: C0265210; Orphanet: 3447; OMIM: 277590

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000193118Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Pathogenic
(Apr 9, 2014)
germlineclinical testing

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

SCV000588200Cincinnati Center for Growth Disorders,Cincinnati Children's Hospital Medical Centerno assertion criteria providedPathogenicde novoresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000193118.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Cincinnati Center for Growth Disorders,Cincinnati Children's Hospital Medical Center, SCV000588200.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided

Description

This is a de novo variant in EZH2. The patient's phenotype fits perfectly with Weaver Syndrome with tall stature and advanced bone age. This same variant is already in ClinVar in another patient with Weaver Syndrome.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 2, 2019

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