NM_003482.4(KMT2D):c.3591del (p.Thr1198fs) AND Kabuki syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 24, 2015
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:: RCV000194782.6

Allele description [Variation Report for NM_003482.4(KMT2D):c.3591del (p.Thr1198fs)]

NM_003482.4(KMT2D):c.3591del (p.Thr1198fs)

Genes:

LOC126861520:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:49442744-49443943 [Gene]
KMT2D:lysine methyltransferase 2D [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_003482.4(KMT2D):c.3591del (p.Thr1198fs)

HGVS:

NC_000012.12:g.49049999del
NG_027827.1:g.10328del
NM_003482.4:c.3591delMANE SELECT
NP_003473.3:p.Thr1198fs
NP_003473.3:p.Thr1198fs
NC_000012.11:g.49443782del
NM_003482.3:c.3591del

Protein change:

T1198fs

Links:

dbSNP: rs797045663

NCBI 1000 Genomes Browser:

rs797045663

Molecular consequence:

NM_003482.4:c.3591del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000247768	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 24, 2015)	germline	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

SCV000247768

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 24, 2015)

germline

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	germline	yes	not provided	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 Genetic Services Laboratory, University of Chicago, SCV000247768.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 9, 2023

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