NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup) AND KAT6A-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 11, 2021
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:: RCV003928189.2

Allele description [Variation Report for NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup)]

NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

8p11.21

Genomic location:

Preferred name:

NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup)

HGVS:

NC_000008.11:g.41933240_41933254dup
NG_042093.1:g.123775_123789dup
NM_006766.3:c.4968_4982dupACAGCAGCCACAGCC
NM_006766.5:c.4968_4982dupMANE SELECT
NP_006757.2:p.Gln1657_Pro1661dup
NC_000008.10:g.41790755_41790756insGGCTGTGGCTGCTGT
NC_000008.10:g.41790758_41790772dup
NM_006766.3:c.4968_4982dup
NM_006766.3:c.4968_4982dup15
NM_006766.3:c.4968_4982dupACAGCAGCCACAGCC
NM_006766.4:c.4968_4982dup15

Links:

dbSNP: rs750049486

NCBI 1000 Genomes Browser:

rs750049486

Molecular consequence:

NM_006766.5:c.4968_4982dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: KAT6A-related disorder
Synonyms:: KAT6A-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004741378	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (May 11, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004741378

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(May 11, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004741378.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine