NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000128657.1

Allele description

NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

10q22.2

Genomic location:

Preferred name:

NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs)

HGVS:

NC_000010.11:g.75030025_75030034dup
NG_032048.1:g.208613_208622dup
NM_001256468.2:c.4652_4661dup
NM_001256469.2:c.4325_4334dup
NM_001370132.1:c.4163_4172dup
NM_001370133.1:c.3512_3521dup
NM_001370134.1:c.3116_3125dup
NM_001370135.1:c.2858_2867dup
NM_001370136.1:c.5201_5210dup
NM_001370137.1:c.5201_5210dup
NM_001370138.1:c.4652_4661dup
NM_001370139.1:c.4325_4334dup
NM_001370140.1:c.4325_4334dup
NM_001370141.1:c.4325_4334dup
NM_001370142.1:c.4325_4334dup
NM_001370143.1:c.4136_4145dup
NM_001370144.1:c.4136_4145dup
NM_012330.4:c.5201_5210dupMANE SELECT
NP_001243397.1:p.Gln1554fs
NP_001243398.1:p.Gln1445fs
NP_001357061.1:p.Gln1391fs
NP_001357062.1:p.Gln1174fs
NP_001357063.1:p.Gln1042fs
NP_001357064.1:p.Gln956fs
NP_001357065.1:p.Gln1737fs
NP_001357066.1:p.Gln1737fs
NP_001357067.1:p.Gln1554fs
NP_001357068.1:p.Gln1445fs
NP_001357069.1:p.Gln1445fs
NP_001357070.1:p.Gln1445fs
NP_001357071.1:p.Gln1445fs
NP_001357072.1:p.Gln1382fs
NP_001357073.1:p.Gln1382fs
NP_036462.2:p.Gln1737fs
NC_000010.10:g.76789783_76789792dup
NM_012330.2:c.5201_5210dup
p.(Gln1554Hisfs*41)
p.Gln1737Hisfs*41

Protein change:

Q1042fs

Links:

dbSNP: rs199470482

NCBI 1000 Genomes Browser:

rs199470482

Molecular consequence:

NM_001256468.2:c.4652_4661dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256469.2:c.4325_4334dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370132.1:c.4163_4172dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370133.1:c.3512_3521dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370134.1:c.3116_3125dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370135.1:c.2858_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370136.1:c.5201_5210dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370137.1:c.5201_5210dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370138.1:c.4652_4661dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370139.1:c.4325_4334dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370140.1:c.4325_4334dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370141.1:c.4325_4334dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370142.1:c.4325_4334dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370143.1:c.4136_4145dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370144.1:c.4136_4145dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012330.4:c.5201_5210dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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transmembrane protein 156 isoform 3 [Rattus norvegicus]
transmembrane protein 156 isoform 3 [Rattus norvegicus]
gi|68341947|ref|NP_001020309.1|

Protein
megakaryocyte and platelet inhibitory receptor G6b isoform G6b-D precursor [Homo...
megakaryocyte and platelet inhibitory receptor G6b isoform G6b-D precursor [Homo sapiens]
gi|19913379|ref|NP_612118.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000172297	Lee Lab(KAT6B), Baylor College of Medicine	no classification provided	not provided	unknown	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000172297

Lee Lab(KAT6B), Baylor College of Medicine

no classification provided

not provided

unknown

not provided

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	unknown	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, et al.

Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008.

PubMed [citation]

PMID:: 22077973
PMCID:: PMC3213399

Details of each submission

From Lee Lab(KAT6B), Baylor College of Medicine, SCV000172297.1

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

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

Last Updated: Mar 26, 2023

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