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NM_024757.5(EHMT1):c.2959A>G (p.Ser987Gly) AND Kleefstra syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 19, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001280843.2

Allele description [Variation Report for NM_024757.5(EHMT1):c.2959A>G (p.Ser987Gly)]

NM_024757.5(EHMT1):c.2959A>G (p.Ser987Gly)

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.2959A>G (p.Ser987Gly)
HGVS:
  • NC_000009.12:g.137813097A>G
  • NG_011776.1:g.199106A>G
  • NM_001354263.2:c.2938A>G
  • NM_024757.5:c.2959A>GMANE SELECT
  • NP_001341192.1:p.Ser980Gly
  • NP_079033.4:p.Ser987Gly
  • NC_000009.11:g.140707549A>G
  • NM_024757.4:c.2959A>G
Protein change:
S980G
Links:
dbSNP: rs751339540
NCBI 1000 Genomes Browser:
rs751339540
Molecular consequence:
  • NM_001354263.2:c.2938A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024757.5:c.2959A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Kleefstra syndrome 1
Identifiers:
MONDO: MONDO:0027407; MedGen: C0795833; Orphanet: 261494; OMIM: 610253

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001468187Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Uncertain significance
(Jun 19, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV001468187.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023