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NM_024757.5(EHMT1):c.508del (p.Gln170fs) AND Kleefstra syndrome 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 26, 2020
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:
RCV001254072.7

Allele description [Variation Report for NM_024757.5(EHMT1):c.508del (p.Gln170fs)]

NM_024757.5(EHMT1):c.508del (p.Gln170fs)

Gene:
EHMT1:euchromatic histone lysine methyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_024757.5(EHMT1):c.508del (p.Gln170fs)
HGVS:
  • NC_000009.12:g.137717048del
  • NG_011776.1:g.103057del
  • NM_001145527.2:c.508del
  • NM_001354259.2:c.415del
  • NM_001354263.2:c.508del
  • NM_001354611.2:c.508del
  • NM_001354612.2:c.415del
  • NM_024757.5:c.508delMANE SELECT
  • NP_001138999.1:p.Gln170fs
  • NP_001341188.1:p.Gln139fs
  • NP_001341192.1:p.Gln170fs
  • NP_001341540.1:p.Gln170fs
  • NP_001341541.1:p.Gln139fs
  • NP_079033.4:p.Gln170fs
  • NC_000009.11:g.140611500del
  • NM_024757.5:c.508delCMANE SELECT
Protein change:
Q139fs
Links:
dbSNP: rs1945392174
NCBI 1000 Genomes Browser:
rs1945392174
Molecular consequence:
  • NM_001145527.2:c.508del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354259.2:c.415del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354263.2:c.508del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354611.2:c.508del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354612.2:c.415del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024757.5:c.508del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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
SCV001429986Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Pathogenic
(Mar 26, 2020) 		de novoclinical testing

Citation Link,

SCV001547477Laboratory of Medical Genetics, University of Torino
no assertion criteria provided
Pathogenic
(Mar 9, 2021) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedclinical testing, research

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001429986.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1bloodnot provided1not providednot providednot provided

From Laboratory of Medical Genetics, University of Torino, SCV001547477.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024