GRCh38/hg38 4q35.2(chr4:189099800-190018185)x1 AND See cases

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 30, 2011
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000140393.3

Allele description [Variation Report for GRCh38/hg38 4q35.2(chr4:189099800-190018185)x1]

GRCh38/hg38 4q35.2(chr4:189099800-190018185)x1

Genes:

LOC126807274:BRD4-independent group 4 enhancer GRCh37_chr4:190229364-190230563 [Gene]
LOC126807275:BRD4-independent group 4 enhancer GRCh37_chr4:190471799-190472998 [Gene]
LOC126807277:BRD4-independent group 4 enhancer GRCh37_chr4:190606699-190607898 [Gene]
LOC126807278:BRD4-independent group 4 enhancer GRCh37_chr4:190608412-190609611 [Gene]
LOC126088085:BRD4-independent group 4 enhancer GRCh37_chr4:190615457-190616656 [Gene]
LOC126807279:BRD4-independent group 4 enhancer GRCh37_chr4:190802184-190803383 [Gene]
LOC126807276:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:190523074-190524273 [Gene]
FRG1-DT:FRG1 divergent transcript [Gene - HGNC]
FRG1:FSHD region gene 1 [Gene - OMIM - HGNC]
LOC123493255:Sharpr-MPRA regulatory region 15710 [Gene]
LOC123493254:Sharpr-MPRA regulatory region 651 [Gene]
LINC01262:long intergenic non-protein coding RNA 1262 [Gene - HGNC]
LINC01596:long intergenic non-protein coding RNA 1596 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

4q35.2

Genomic location:

Preferred name:

GRCh38/hg38 4q35.2(chr4:189099800-190018185)x1

HGVS:

NC_000004.12:g.(?_189099800)_(190018185_?)del
NC_000004.10:g.(?_190257948)_(191176334_?)del
NC_000004.11:g.(?_190020954)_(190939340_?)del

Links:

dbVar: nssv1609588; dbVar: nsv931577

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000181076	GeneDx	no assertion criteria provided	Likely benign (Apr 30, 2011)	not provided	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000181076

GeneDx

no assertion criteria provided

Likely benign
(Apr 30, 2011)

not provided

clinical testing

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000181076.3

#	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	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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