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NM_014727.3(KMT2B):c.5060dup (p.Asp1687fs) AND Dystonia 28, childhood-onset

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 10, 2023
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:
RCV003324629.3

Allele description [Variation Report for NM_014727.3(KMT2B):c.5060dup (p.Asp1687fs)]

NM_014727.3(KMT2B):c.5060dup (p.Asp1687fs)

Gene:
KMT2B:lysine methyltransferase 2B [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_014727.3(KMT2B):c.5060dup (p.Asp1687fs)
HGVS:
  • NC_000019.10:g.35730109dup
  • NG_052906.1:g.17091dup
  • NM_014727.3:c.5060dupMANE SELECT
  • NP_055542.1:p.Asp1687fs
  • NC_000019.9:g.36221010dup
Protein change:
D1687fs
Molecular consequence:
  • NM_014727.3:c.5060dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Dystonia 28, childhood-onset (DYT28)
Identifiers:
MONDO: MONDO:0015004; MedGen: C4310633; OMIM: 617284

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004030206MVZ Medizinische Genetik Mainz
no assertion criteria provided
Pathogenic
(Aug 10, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004030206.2

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

Last Updated: Jun 2, 2024