NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys) AND Kabuki syndrome 1

Germline classification:: Pathogenic (1 submission)
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:: RCV000578132.9

Allele description [Variation Report for NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys)]

NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys)

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.3019G>T (p.Gly1007Cys)

HGVS:

NC_000011.10:g.118474178G>T
NG_027813.1:g.42689G>T
NM_001197104.2:c.3019G>TMANE SELECT
NM_005933.4:c.3019G>T
NP_001184033.1:p.Gly1007Cys
NP_001184033.1:p.Gly1007Cys
NP_005924.2:p.Gly1007Cys
LRG_613t1:c.3019G>T
LRG_613:g.42689G>T
LRG_613p1:p.Gly1007Cys
NC_000011.9:g.118344893G>T
NM_001197104.1:c.3019G>T

Protein change:

G1007C

Links:

dbSNP: rs940325244

NCBI 1000 Genomes Browser:

rs940325244

Molecular consequence:

NM_001197104.2:c.3019G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005933.4:c.3019G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000583543	Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	de novo	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 29255178

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000583543

Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

de novo

research

PubMed (2)
[See all records that cite these PMIDs]

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	research

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

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.

Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J, Doheny KF, Mingroni-Netto RC, Bertola D, Kim CA, Perez AB, Melaragno MI, Valle D, Meloni VA, Bjornsson HT.

Eur J Hum Genet. 2017 Dec;25(12):1335-1344. doi: 10.1038/s41431-017-0023-0. Epub 2017 Nov 7.

PubMed [citation]

PMID:: 29255178
PMCID:: PMC5865196

Details of each submission

From Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine, SCV000583543.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)

#	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: Oct 26, 2024

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