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NM_001197104.2(KMT2A):c.7302dup (p.Ser2435fs) AND Wiedemann-Steiner syndrome

Germline classification:
Pathogenic (1 submission)
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:
RCV002281892.1

Allele description [Variation Report for NM_001197104.2(KMT2A):c.7302dup (p.Ser2435fs)]

NM_001197104.2(KMT2A):c.7302dup (p.Ser2435fs)

Gene:
KMT2A:lysine methyltransferase 2A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001197104.2(KMT2A):c.7302dup (p.Ser2435fs)
HGVS:
  • NC_000011.10:g.118503194dup
  • NG_027813.1:g.71705dup
  • NM_001197104.2:c.7302dupMANE SELECT
  • NM_005933.4:c.7293dup
  • NP_001184033.1:p.Ser2435Ilefs
  • NP_001184033.1:p.Ser2435fs
  • NP_005924.2:p.Ser2432fs
  • LRG_613t1:c.7302dup
  • LRG_613:g.71705dup
  • LRG_613p1:p.Ser2435Ilefs
  • NC_000011.9:g.118373909dup
  • NM_001197104.1:c.7302dup
Protein change:
S2432fs
Molecular consequence:
  • NM_001197104.2:c.7302dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005933.4:c.7293dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Wiedemann-Steiner syndrome (WDSTS)
Synonyms:
Growth deficiency and mental retardation with facial dysmorphism
Identifiers:
MONDO: MONDO:0011518; MedGen: C1854630; OMIM: 605130

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002571103Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital)
no assertion criteria provided
Pathogenicde novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital), SCV002571103.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 24, 2022