NM_001197104.2(KMT2A):c.8183_8186del (p.Glu2728fs) AND Wiedemann-Steiner syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000824862.1

Allele description [Variation Report for NM_001197104.2(KMT2A):c.8183_8186del (p.Glu2728fs)]

NM_001197104.2(KMT2A):c.8183_8186del (p.Glu2728fs)

Gene:
KMT2A:lysine methyltransferase 2A [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001197104.2(KMT2A):c.8183_8186del (p.Glu2728fs)
HGVS:
  • NC_000011.10:g.118504073AG[1]
  • NC_000011.10:g.118504073_118504074AG[1]
  • NG_027813.1:g.72584AG[1]
  • NM_001197104.2:c.8183_8186delMANE SELECT
  • NM_005933.4:c.8174_8177del
  • NP_001184033.1:p.Glu2728fs
  • NP_005924.2:p.Glu2725fs
  • LRG_613:g.72584AG[1]
  • NC_000011.9:g.118374788AG[1]
  • NM_005933.3:c.8174_8177del
Protein change:
E2725fs
Links:
dbSNP: rs1591283017
NCBI 1000 Genomes Browser:
rs1591283017
Molecular consequence:
  • NM_001197104.2:c.8183_8186del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005933.4:c.8174_8177del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000965765Equipe Genetique des Anomalies du Developpement, Université de Bourgognecriteria provided, single submitter
Likely pathogenic
(Jan 1, 2016)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot 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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000965765.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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