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NM_024757.5(EHMT1):c.2184C>T (p.Asp728=) AND History of neurodevelopmental disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 31, 2017
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:
RCV000719035.1

Allele description

NM_024757.5(EHMT1):c.2184C>T (p.Asp728=)

Gene:
EHMT1:euchromatic histone lysine methyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_024757.5(EHMT1):c.2184C>T (p.Asp728=)
HGVS:
  • NC_000009.12:g.137778047C>T
  • NG_011776.1:g.164056C>T
  • NM_001145527.2:c.2184C>T
  • NM_001354259.2:c.2091C>T
  • NM_001354263.2:c.2163C>T
  • NM_024757.5:c.2184C>TMANE SELECT
  • NP_001138999.1:p.Asp728=
  • NP_001341188.1:p.Asp697=
  • NP_001341192.1:p.Asp721=
  • NP_079033.4:p.Asp728=
  • NC_000009.11:g.140672499C>T
  • NM_024757.4:c.2184C>T
Links:
dbSNP: rs760890506
NCBI 1000 Genomes Browser:
rs760890506
Molecular consequence:
  • NM_001145527.2:c.2184C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354259.2:c.2091C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354263.2:c.2163C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024757.5:c.2184C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000849899Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))		Likely benign
(May 31, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000849899.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Synonymous alterations with insufficient evidence to classify as benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Aug 23, 2022