GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708) AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2022
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:: RCV002053160.3

Allele description [Variation Report for GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)]

GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)

Genes:

NOX1:NADPH oxidase 1 [Gene - OMIM - HGNC]
CSTF2:cleavage stimulation factor subunit 2 [Gene - OMIM - HGNC]
DIAPH2:diaphanous related formin 2 [Gene - OMIM - HGNC]
FAM133A:family with sequence similarity 133 member A [Gene - HGNC]
NAP1L3:nucleosome assembly protein 1 like 3 [Gene - OMIM - HGNC]
PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
RPA4:replication protein A4 [Gene - OMIM - HGNC]
SRPX2:sushi repeat containing protein X-linked 2 [Gene - OMIM - HGNC]
SYTL4:synaptotagmin like 4 [Gene - OMIM - HGNC]
TNMD:tenomodulin [Gene - OMIM - HGNC]
TSPAN6:tetraspanin 6 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

Xq21.32-22.1

Genomic location:

ChrX: 92879337 - 100099708 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)

HGVS:

NC_000023.10:g.(?_92879337)_(100099708_?)del

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002319956	ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	criteria provided, single submitter (ARUP Cytogenomic Constitutional CNV Assertion Criteria)	Pathogenic (Mar 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002319956

ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories

criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)

Pathogenic
(Mar 1, 2022)

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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002319956.1

#	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	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Aug 15, 2022

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