NM_003482.4(KMT2D):c.11275C>T (p.Gln3759Ter) AND Kabuki syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 17, 2014
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:: RCV000200354.1

Allele description [Variation Report for NM_003482.4(KMT2D):c.11275C>T (p.Gln3759Ter)]

NM_003482.4(KMT2D):c.11275C>T (p.Gln3759Ter)

Gene:

KMT2D:lysine methyltransferase 2D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_003482.4(KMT2D):c.11275C>T (p.Gln3759Ter)

HGVS:

NC_000012.12:g.49033430G>A
NG_027827.1:g.26895C>T
NM_003482.4:c.11275C>TMANE SELECT
NP_003473.3:p.Gln3759Ter
NP_003473.3:p.Gln3759Ter
NC_000012.11:g.49427213G>A
NM_003482.3:c.11275C>T

Protein change:

Q3759*

Links:

dbSNP: rs863224890

NCBI 1000 Genomes Browser:

rs863224890

Molecular consequence:

NM_003482.4:c.11275C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Kabuki syndrome 1 (KABUK1)
Identifiers:: MONDO: MONDO:0007843; MedGen: CN030661; Orphanet: 2322; OMIM: 147920

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000255401	UCLA Clinical Genomics Center, UCLA - CES	criteria provided, single submitter (Lee et al. (JAMA. 2014))	Pathogenic (Jun 17, 2014)	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

SCV000255401

UCLA Clinical Genomics Center, UCLA - CES

criteria provided, single submitter

(Lee et al. (JAMA. 2014))

Pathogenic
(Jun 17, 2014)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

PubMed [citation]

PMID:: 25326637
PMCID:: PMC4278636

Details of each submission

From UCLA Clinical Genomics Center, UCLA - CES, SCV000255401.2

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

Last Updated: Apr 23, 2022

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