NM_182931.3(KMT2E):c.2107G>T (p.Glu703Ter) 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:: RCV001420167.1

Allele description [Variation Report for NM_182931.3(KMT2E):c.2107G>T (p.Glu703Ter)]

NM_182931.3(KMT2E):c.2107G>T (p.Glu703Ter)

Gene:

KMT2E:lysine methyltransferase 2E (inactive) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.3

Genomic location:

Preferred name:

NM_182931.3(KMT2E):c.2107G>T (p.Glu703Ter)

HGVS:

NC_000007.14:g.105102105G>T
NG_033949.1:g.92916G>T
NM_018682.4:c.2107G>T
NM_182931.3:c.2107G>TMANE SELECT
NP_061152.3:p.Glu703Ter
NP_891847.1:p.Glu703Ter
LRG_1404t1:c.2107G>T
LRG_1404:g.92916G>T
LRG_1404p1:p.Glu703Ter
NC_000007.13:g.104742552G>T
NM_182931.2:c.2107G>T

Protein change:

E703*

Links:

dbSNP: rs1798679896

NCBI 1000 Genomes Browser:

rs1798679896

Molecular consequence:

NM_018682.4:c.2107G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_182931.3:c.2107G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

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

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Pyruvate kinase, muscle [Homo sapiens]
Pyruvate kinase, muscle [Homo sapiens]
gi|127795697|gb|AAH12811.3|

Protein
ral GTPase-activating protein subunit alpha-1 isoform X3 [Danio rerio]
ral GTPase-activating protein subunit alpha-1 isoform X3 [Danio rerio]
gi|1207129738|ref|XP_021322992.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001622588	Institute of Human Genetics, Cologne University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 28, 2021)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001622588

Institute of Human Genetics, Cologne University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 28, 2021)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	1	not provided	not provided	not provided	clinical 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, SCV001622588.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Apr 23, 2022

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