NM_001197104.2(KMT2A):c.5168dup (p.Tyr1723Ter) AND Wiedemann-Steiner syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 5, 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:: RCV002468730.4

Allele description [Variation Report for NM_001197104.2(KMT2A):c.5168dup (p.Tyr1723Ter)]

NM_001197104.2(KMT2A):c.5168dup (p.Tyr1723Ter)

Gene:

KMT2A:lysine methyltransferase 2A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_001197104.2(KMT2A):c.5168dup (p.Tyr1723Ter)

HGVS:

NC_000011.10:g.118493220dup
NG_027813.1:g.61731dup
NM_001197104.2:c.5168dupMANE SELECT
NM_001412597.1:c.5258dup
NM_005933.4:c.5159dup
NP_001184033.1:p.Tyr1723Ter
NP_001184033.1:p.Tyr1723Terfs
NP_001399526.1:p.Tyr1753Terfs
NP_005924.2:p.Tyr1720Ter
LRG_613t1:c.5168dup
LRG_613:g.61731dup
LRG_613p1:p.Tyr1723Terfs
NC_000011.9:g.118363935dup
NM_001197104.1:c.5168dup

Protein change:

Y1720*

Molecular consequence:

NM_001412597.1:c.5258dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001197104.2:c.5168dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001412597.1:c.5258dup - nonsense - [Sequence Ontology: SO:0001587]
NM_005933.4:c.5159dup - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002764756	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Mar 5, 2021)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002764756

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Mar 5, 2021)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV002764756.1

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

#	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	not provided	not provided

Last Updated: Jun 23, 2024

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