Single allele AND Branched-chain keto acid dehydrogenase kinase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 16, 2018
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:: RCV000735205.2

Allele description [Variation Report for Single allele]

Genes:

BCL7C:BAF chromatin remodeling complex subunit BCL7C [Gene - OMIM - HGNC]
FBXL19:F-box and leucine rich repeat protein 19 [Gene - OMIM - HGNC]
FUS:FUS RNA binding protein [Gene - OMIM - HGNC]
ORAI3:ORAI calcium release-activated calcium modulator 3 [Gene - OMIM - HGNC]
PYCARD:PYD and CARD domain containing [Gene - OMIM - HGNC]
RUSF1:RUS family member 1 [Gene - HGNC]
SETD1A:SET domain containing 1A, histone lysine methyltransferase [Gene - OMIM - HGNC]
SRCAP:Snf2 related CREBBP activator protein [Gene - OMIM - HGNC]
ARMC5:armadillo repeat containing 5 [Gene - OMIM - HGNC]
BCKDK:branched chain keto acid dehydrogenase kinase [Gene - OMIM - HGNC]
CTF1:cardiotrophin 1 [Gene - OMIM - HGNC]
CFAP119:cilia and flagella associated protein 119 [Gene - OMIM - HGNC]
COX6A2:cytochrome c oxidase subunit 6A2 [Gene - OMIM - HGNC]
FBRS:fibrosin [Gene - OMIM - HGNC]
HSD3B7:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Gene - OMIM - HGNC]
ITGAD:integrin subunit alpha D [Gene - OMIM - HGNC]
ITGAM:integrin subunit alpha M [Gene - OMIM - HGNC]
ITGAX:integrin subunit alpha X [Gene - OMIM - HGNC]
KAT8:lysine acetyltransferase 8 [Gene - OMIM - HGNC]
PHKG2:phosphorylase kinase catalytic subunit gamma 2 [Gene - OMIM - HGNC]
PRR14:proline rich 14 [Gene - OMIM - HGNC]
PYDC1:pyrin domain containing 1 [Gene - OMIM - HGNC]
RNF40:ring finger protein 40 [Gene - OMIM - HGNC]
PRSS36:serine protease 36 [Gene - OMIM - HGNC]
PRSS53:serine protease 53 [Gene - OMIM - HGNC]
PRSS8:serine protease 8 [Gene - OMIM - HGNC]
SLC5A2:solute carrier family 5 member 2 [Gene - OMIM - HGNC]
STX1B:syntaxin 1B [Gene - OMIM - HGNC]
STX4:syntaxin 4 [Gene - OMIM - HGNC]
TGFB1I1:transforming growth factor beta 1 induced transcript 1 [Gene - OMIM - HGNC]
TRIM72:tripartite motif containing 72 [Gene - OMIM - HGNC]
VKORC1:vitamin K epoxide reductase complex subunit 1 [Gene - OMIM - HGNC]
ZNF629:zinc finger protein 629 [Gene - OMIM - HGNC]
ZNF646:zinc finger protein 646 [Gene - OMIM - HGNC]
ZNF668:zinc finger protein 668 [Gene - OMIM - HGNC]
ZNF688:zinc finger protein 688 [Gene - HGNC]
ZNF689:zinc finger protein 689 [Gene - OMIM - HGNC]
ZNF764:zinc finger protein 764 [Gene - OMIM - HGNC]
ZNF785:zinc finger protein 785 [Gene - HGNC]
ZNF843:zinc finger protein 843 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p11.2

Genomic location:

Chr16: 30554158 - 31536880 (on Assembly GRCh37)

HGVS:

NC_000016.9:g.30554158_31536880del

Observations:

Condition(s)

Name:: Branched-chain keto acid dehydrogenase kinase deficiency (BCKDKD)
Synonyms:: BCKDK DEFICIENCY
Identifiers:: MONDO: MONDO:0013970; MedGen: C3554078; Orphanet: 308410; OMIM: 614923

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000863411	Undiagnosed Diseases Network, NIH	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 16, 2018)	paternal	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

SCV000863411

Undiagnosed Diseases Network, NIH

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 16, 2018)

paternal

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
White	paternal	yes	1	1	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 Undiagnosed Diseases Network, NIH, SCV000863411.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	White	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	paternal	yes	not provided	blood	not provided		1	not provided	1	not provided

Last Updated: Feb 4, 2024

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