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NM_182931.3(KMT2E):c.2051_2052dup (p.Glu685Ter) AND O'Donnell-Luria-Rodan syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 28, 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:
RCV001420166.2

Allele description [Variation Report for NM_182931.3(KMT2E):c.2051_2052dup (p.Glu685Ter)]

NM_182931.3(KMT2E):c.2051_2052dup (p.Glu685Ter)

Gene:
KMT2E:lysine methyltransferase 2E (inactive) [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_182931.3(KMT2E):c.2051_2052dup (p.Glu685Ter)
HGVS:
  • NC_000007.14:g.105102047TA[3]
  • NG_033949.1:g.92858TA[3]
  • NM_018682.4:c.2051_2052dup
  • NM_182931.3:c.2051_2052dupMANE SELECT
  • NP_061152.3:p.Glu685Ter
  • NP_891847.1:p.Glu685Ter
  • LRG_1404t1:c.2051_2052dup
  • LRG_1404:g.92858TA[3]
  • LRG_1404p1:p.Glu685Ter
  • NC_000007.13:g.104742494TA[3]
  • NM_182931.2:c.2051_2052dup
Protein change:
E685*
Links:
dbSNP: rs1562928193
NCBI 1000 Genomes Browser:
rs1562928193
Molecular consequence:
  • NM_018682.4:c.2051_2052dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_182931.3:c.2051_2052dup - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
O'Donnell-Luria-Rodan syndrome (ODLURO)
Identifiers:
MONDO: MONDO:0032793; MedGen: C5193138; OMIM: 618512

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001622587Institute of Human Genetics, Cologne University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 28, 2021) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not 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 of Human Genetics, Cologne University, SCV001622587.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: Sep 30, 2023