NM_004456.5(EZH2):c.1876G>A (p.Val626Met) AND Weaver syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 9, 2014
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000145972.1

Allele description

NM_004456.5(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_004456.5(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_004456.5:c.1876G>AMANE SELECT
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_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_004456.5: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)
Synonyms:: Weaver Smith syndrome; Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly
Identifiers:: MONDO: MONDO:0010193; MedGen: C0265210; Orphanet: 3447; OMIM: 277590

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000193118	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Pathogenic (Apr 9, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000588200	Cincinnati Center for Growth Disorders,Cincinnati Children's Hospital Medical Center	no assertion criteria provided	Pathogenic	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000193118

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Pathogenic
(Apr 9, 2014)

germline

clinical testing

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

SCV000588200

Cincinnati Center for Growth Disorders,Cincinnati Children's Hospital Medical Center

no assertion criteria provided

Pathogenic

de novo

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	research

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	research	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 25, 2021

ClinVar

Relating variation to medicine