NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 28, 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:: RCV000623870.4

Allele description [Variation Report for NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)]

NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)

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.3385C>T (p.Arg1129Ter)

Other names:

NM_001099412.1:c.3385C>T

HGVS:

NC_000008.11:g.41934835G>A
NG_042093.1:g.122192C>T
NM_006766.5:c.3385C>TMANE SELECT
NP_006757.2:p.Arg1129Ter
NC_000008.10:g.41792353G>A
NM_006766.3:c.3385C>T
NM_006766.4:c.3385C>T

Protein change:

R1129*; ARG1129TER

Links:

OMIM: 601408.0001; dbSNP: rs786200960

NCBI 1000 Genomes Browser:

rs786200960

Molecular consequence:

NM_006766.5:c.3385C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000741647	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Jun 28, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741647

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Jun 28, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian/Norwegian/Polish/German	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

The diverse biological roles of MYST histone acetyltransferase family proteins.

Thomas T, Voss AK.

Cell Cycle. 2007 Mar 15;6(6):696-704. Epub 2007 Mar 15. Review.

PubMed [citation]

PMID:: 17374998

Details of each submission

From Ambry Genetics, SCV000741647.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian/Norwegian/Polish/German	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	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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