NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter) AND Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 3, 2020
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:: RCV001264751.1

Allele description [Variation Report for NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter)]

NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.21

Genomic location:

Preferred name:

NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter)

HGVS:

NC_000008.11:g.41933275G>A
NG_042093.1:g.123752C>T
NM_006766.5:c.4945C>TMANE SELECT
NP_006757.2:p.Gln1649Ter
NC_000008.10:g.41790793G>A
NM_006766.4:c.4945C>T

Protein change:

Q1649*

Links:

dbSNP: rs1821661078

NCBI 1000 Genomes Browser:

rs1821661078

Molecular consequence:

NM_006766.5:c.4945C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome (ARTHS)
Synonyms:: Arboleda-Tham syndrome; Mental retardation, autosomal dominant 32; KAT6A syndrome
Identifiers:: MONDO: MONDO:0014558; MedGen: C4225396; Orphanet: 457193; OMIM: 616268

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001442985	Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	no assertion criteria provided	Pathogenic (Apr 3, 2020)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001442985

Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

no assertion criteria provided

Pathogenic
(Apr 3, 2020)

de novo

clinical testing

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

Details of each submission

From Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, SCV001442985.1

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

#	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: Jun 23, 2024

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