NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup) AND not specified

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Aug 28, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000246745.13

Allele description [Variation Report for NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup)]

NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup)

Gene:

KAT6B:lysine acetyltransferase 6B [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

10q22.2

Genomic location:

Preferred name:

NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup)

HGVS:

NC_000010.11:g.75022148GAA[9]
NG_032048.1:g.200736GAA[9]
NM_001256468.2:c.2740GAA[9]
NM_001256469.2:c.2413GAA[9]
NM_001370132.1:c.2251GAA[9]
NM_001370133.1:c.1600GAA[9]
NM_001370134.1:c.1204GAA[9]
NM_001370135.1:c.946GAA[9]
NM_001370136.1:c.3289GAA[9]
NM_001370137.1:c.3289GAA[9]
NM_001370138.1:c.2740GAA[9]
NM_001370139.1:c.2413GAA[9]
NM_001370140.1:c.2413GAA[9]
NM_001370141.1:c.2413GAA[9]
NM_001370142.1:c.2413GAA[9]
NM_001370143.1:c.2224GAA[9]
NM_001370144.1:c.2224GAA[9]
NM_012330.4:c.3289GAA[9]MANE SELECT
NP_001243397.1:p.Glu921dup
NP_001243398.1:p.Glu812dup
NP_001357061.1:p.Glu758dup
NP_001357062.1:p.Glu541dup
NP_001357063.1:p.Glu409dup
NP_001357064.1:p.Glu323dup
NP_001357065.1:p.Glu1104dup
NP_001357066.1:p.Glu1104dup
NP_001357067.1:p.Glu921dup
NP_001357068.1:p.Glu812dup
NP_001357069.1:p.Glu812dup
NP_001357070.1:p.Glu812dup
NP_001357071.1:p.Glu812dup
NP_001357072.1:p.Glu749dup
NP_001357073.1:p.Glu749dup
NP_036462.2:p.Glu1104dup
NC_000010.10:g.76781905_76781906insGAA
NC_000010.10:g.76781906GAA[9]
NM_012330.3:c.3310_3312dup
NM_012330.3:c.3310_3312dupGAA

Links:

dbSNP: rs71929101

NCBI 1000 Genomes Browser:

rs71929101

Molecular consequence:

NM_001256468.2:c.2740GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001256469.2:c.2413GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370132.1:c.2251GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370133.1:c.1600GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370134.1:c.1204GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370135.1:c.946GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370136.1:c.3289GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370137.1:c.3289GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370138.1:c.2740GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370139.1:c.2413GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370140.1:c.2413GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370141.1:c.2413GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370142.1:c.2413GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370143.1:c.2224GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370144.1:c.2224GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_012330.4:c.3289GAA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Labrenzia sp. AU397_Ted1_MB20 partial 16S rRNA gene, isolate AU397_Ted1_MB20
Labrenzia sp. AU397_Ted1_MB20 partial 16S rRNA gene, isolate AU397_Ted1_MB20
gi|1121379950|emb|LN909156.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000311909	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000864360	Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 28, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001965923	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000311909

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

clinical testing

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

SCV000864360

Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Aug 28, 2017)

germline

clinical testing

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

SCV001965923

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

Help

Summary from all submissions

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

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000311909.1

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

From Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital, SCV000864360.1

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

Description

BS1, BS2, BP3; This alteration has an allele frequency that is greater than expected for the associated disease, was seen in a healthy adult where full penetrance of the disorder is expected at an early age, and is an in-frame deletion/insertion in a repetitive region without a known function.

#	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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001965923.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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