NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs) AND Syndromic intellectual disability

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 18, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000162316.2

Allele description [Variation Report for NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)]

NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)

Gene:

KAT6A:lysine acetyltransferase 6A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

8p11.21

Genomic location:

Preferred name:

NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)

HGVS:

NC_000008.11:g.41934341dup
NG_042093.1:g.122686dup
NM_006766.5:c.3879dupMANE SELECT
NP_006757.2:p.Glu1294fs
NC_000008.10:g.41791859dup
NM_006766.3:c.3879dup

Protein change:

E1294fs

Links:

OMIM: 601408.0003; dbSNP: rs786200952

NCBI 1000 Genomes Browser:

rs786200952

Molecular consequence:

NM_006766.5:c.3879dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Syndromic intellectual disability
Synonyms:: Intellectual disability syndrome
Identifiers:: MONDO: MONDO:0000508; MedGen: C5680525

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000196161	Clinical Genetics and Genomics, Karolinska University Hospital	no assertion criteria provided	Pathogenic (Dec 18, 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

SCV000196161

Clinical Genetics and Genomics, Karolinska University Hospital

no assertion criteria provided

Pathogenic
(Dec 18, 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	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A.

Am J Hum Genet. 2015 Mar 5;96(3):507-13. doi: 10.1016/j.ajhg.2015.01.016. Epub 2015 Feb 26.

PubMed [citation]

PMID:: 25728777
PMCID:: PMC4375419

Details of each submission

From Clinical Genetics and Genomics, Karolinska University Hospital, SCV000196161.1

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

Last Updated: Feb 4, 2024

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