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NM_001197104.2(KMT2A):c.883_886del (p.Lys295fs) AND Wiedemann-Steiner syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 9, 2021
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:
RCV001290428.3

Allele description [Variation Report for NM_001197104.2(KMT2A):c.883_886del (p.Lys295fs)]

NM_001197104.2(KMT2A):c.883_886del (p.Lys295fs)

Gene:
KMT2A:lysine methyltransferase 2A [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001197104.2(KMT2A):c.883_886del (p.Lys295fs)
HGVS:
  • NC_000011.10:g.118472038AAGG[1]
  • NG_027813.1:g.40549AAGG[1]
  • NM_001197104.2:c.883_886delMANE SELECT
  • NM_005933.4:c.883_886del
  • NP_001184033.1:p.Lys295fs
  • NP_005924.2:p.Lys295fs
  • LRG_613t1:c.883_886del
  • LRG_613:g.40549AAGG[1]
  • NC_000011.9:g.118342753AAGG[1]
  • NM_001197104.1:c.883_886del
Protein change:
K295fs
Links:
dbSNP: rs1949951871
NCBI 1000 Genomes Browser:
rs1949951871
Molecular consequence:
  • NM_001197104.2:c.883_886del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005933.4:c.883_886del - 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
SCV001478458Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 9, 2021) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, SCV001478458.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The detected change has not yet been reported in the relevant databases (dbSNP151, gnomAD, ClinVar) or the literature. The variant leads to a frame shift and therefore, in all probability, to a loss of function of the corresponding protein. Mutations associated with a loss of function are known to be the cause of the disease in Wiedemann-Steiner syndrome (Jones et al., 2012). At the present time, the variant is to be regarded as a “likely pathogenic variant” (ACMG criteria).

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

Last Updated: Jun 23, 2024