NM_003482.4(KMT2D):c.16437del (p.Asn5480fs) AND Kabuki syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2016
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:: RCV000659835.1

Allele description [Variation Report for NM_003482.4(KMT2D):c.16437del (p.Asn5480fs)]

NM_003482.4(KMT2D):c.16437del (p.Asn5480fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_003482.4(KMT2D):c.16437del (p.Asn5480fs)

HGVS:

NC_000012.12:g.49022127del
NG_027827.1:g.38198del
NM_003482.4:c.16437delMANE SELECT
NP_003473.3:p.Asn5480fs
NC_000012.11:g.49415910del
NM_003482.3:c.16437delT

Protein change:

N5480fs

Links:

dbSNP: rs1555184635

NCBI 1000 Genomes Browser:

rs1555184635

Molecular consequence:

NM_003482.4:c.16437del - 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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ND5 [Strongylocentrotus droebachiensis]
ND5 [Strongylocentrotus droebachiensis]
Gene ID:5692652

Gene
ND5 [Ophiura albida]
ND5 [Ophiura albida]
Gene ID:6295798

Gene
PREDICTED: primary amine oxidase [Cucumis melo]
PREDICTED: primary amine oxidase [Cucumis melo]
gi|659097299|ref|XP_008449550.1|

Protein
BioSample links for Nucleotide (Select 33610164) (1)
BioSample
pBluescript Lion
pBluescript Lion

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000781699	Center for Human Genetics, Inc, Center for Human Genetics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 1, 2016)	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

SCV000781699

Center for Human Genetics, Inc, Center for Human Genetics, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 1, 2016)

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 Center for Human Genetics, Inc, Center for Human Genetics, Inc, SCV000781699.1

#	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 23, 2022

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