NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter) AND Wiedemann-Steiner syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 8, 2017
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:: RCV000625973.2

Allele description [Variation Report for NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter)]

NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter)

HGVS:

NC_000011.10:g.118478153T>G
NG_027813.1:g.46664T>G
NM_001197104.2:c.3521T>GMANE SELECT
NM_005933.4:c.3521T>G
NP_001184033.1:p.Leu1174Ter
NP_001184033.1:p.Leu1174Ter
NP_005924.2:p.Leu1174Ter
LRG_613t1:c.3521T>G
LRG_613:g.46664T>G
LRG_613p1:p.Leu1174Ter
NC_000011.9:g.118348868T>G
NM_001197104.1:c.3521T>G
p.L1174X

Protein change:

L1174*

Links:

dbSNP: rs1555038111

NCBI 1000 Genomes Browser:

rs1555038111

Molecular consequence:

NM_001197104.2:c.3521T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_005933.4:c.3521T>G - 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
SCV000746574	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 8, 2017)	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

SCV000746574

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 8, 2017)

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
White	de novo	yes	1	not provided	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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000746574.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	White	1	not provided	not provided	clinical testing (GTR000553916.1)	PubMed (1)

Description

The c.3521T>G missense variant in KMT2A gene was identified as a de novo variant.

#	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	(GTR000553916.1)	1	not provided	not provided	not provided

Last Updated: Aug 15, 2022

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