GRCh37/hg19 16q23.1(chr16:75411853-75567059)x3 AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 31, 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:: RCV000762775.3

Allele description [Variation Report for GRCh37/hg19 16q23.1(chr16:75411853-75567059)x3]

GRCh37/hg19 16q23.1(chr16:75411853-75567059)x3

Genes:

CHST5:carbohydrate sulfotransferase 5 [Gene - OMIM - HGNC]
CHST6:carbohydrate sulfotransferase 6 [Gene - OMIM - HGNC]
CFDP1:craniofacial development protein 1 [Gene - OMIM - HGNC]
TMEM170A:transmembrane protein 170A [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

16q23.1

Genomic location:

Chr16: 75411853 - 75567059 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 16q23.1(chr16:75411853-75567059)x3

HGVS:

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Homo sapiens TATA-box binding protein associated factor, RNA polymerase I subunit B (TAF1B), transcript variant 1, mRNA
gi|1519312434|ref|NM_005680.3|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000893111	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)	Uncertain significance (Aug 31, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000893111

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)

Uncertain significance
(Aug 31, 2018)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000893111.2

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

Last Updated: Dec 24, 2022

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