NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) AND Blepharophimosis - intellectual disability syndrome, SBBYS type - ClinVar

NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) AND Blepharophimosis - intellectual disability syndrome, SBBYS type

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 16, 2015
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:: RCV000032259.4

Allele description [Variation Report for NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs)]

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)

Name:: Blepharophimosis - intellectual disability syndrome, SBBYS type (SBBYSS)
Synonyms:: OHDO SYNDROME, SBBYS VARIANT; Young Simpson syndrome; Mental retardation unusual facies hypothyroidism; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011365; MedGen: C1863557; Orphanet: 3047; OMIM: 603736

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PREDICTED: Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 ...
PREDICTED: Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant X5, mRNA
gi|578815383|ref|XM_006716363.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000055893	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 22077973, 27696664, 23236640
SCV000292228	Center of Genomic medicine, Geneva, University Hospital of Geneva - Final Reports_Cases2015_1	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 16, 2015)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000055893

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

SCV000292228

Center of Genomic medicine, Geneva, University Hospital of Geneva - Final Reports_Cases2015_1

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 16, 2015)

de novo

clinical testing

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	de novo	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	literature only

Citations

PubMed

A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.

Niida Y, Mitani Y, Kuroda M, Yokoi A, Nakagawa H, Kato A.

Congenit Anom (Kyoto). 2017 May;57(3):86-88. doi: 10.1111/cga.12196.

PubMed [citation]

PMID:: 27696664

KAT6B Disorders.

Lemire G, Campeau PM, Lee BH.

2012 Dec 13 [updated 2020 Jan 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 23236640

See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000055893.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

#	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 Center of Genomic medicine, Geneva, University Hospital of Geneva - Final Reports_Cases2015_1, SCV000292228.1

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

Description

Mutations in the KAT6B gene are well known to be involved in the Ohdo/SBBYS syndrome. Here we report the case of a new-born girl with clinical suspicion of this syndrome and harbouring a pathogenic de novo mutation in this gene

#	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: Oct 8, 2024

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