GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1 AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 4, 2018
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:: RCV000847013.2

Allele description [Variation Report for GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1]

GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1

Genes:

CSMD3:CUB and Sushi multiple domains 3 [Gene - OMIM - HGNC]
DCAF13:DDB1 and CUL4 associated factor 13 [Gene - OMIM - HGNC]
ENY2:ENY2 transcription and export complex 2 subunit [Gene - OMIM - HGNC]
EMC2:ER membrane protein complex subunit 2 [Gene - OMIM - HGNC]
LRP12:LDL receptor related protein 12 [Gene - OMIM - HGNC]
LOC100130232:LP2209 [Gene]
NUDCD1:NudC domain containing 1 [Gene - OMIM - HGNC]
PKHD1L1:PKHD1 like 1 [Gene - OMIM - HGNC]
RSPO2:R-spondin 2 [Gene - OMIM - HGNC]
ABRA:actin binding Rho activating protein [Gene - OMIM - HGNC]
ANGPT1:angiopoietin 1 [Gene - OMIM - HGNC]
DCSTAMP:dendrocyte expressed seven transmembrane protein [Gene - OMIM - HGNC]
DPYS:dihydropyrimidinase [Gene - OMIM - HGNC]
EBAG9:estrogen receptor binding site associated antigen 9 [Gene - OMIM - HGNC]
EIF3E:eukaryotic translation initiation factor 3 subunit E [Gene - OMIM - HGNC]
OXR1:oxidation resistance 1 [Gene - OMIM - HGNC]
KCNV1:potassium voltage-gated channel modifier subfamily V member 1 [Gene - OMIM - HGNC]
RIMS2:regulating synaptic membrane exocytosis 2 [Gene - OMIM - HGNC]
SYBU:syntabulin [Gene - OMIM - HGNC]
TRHR:thyrotropin releasing hormone receptor [Gene - OMIM - HGNC]
TMEM74:transmembrane protein 74 [Gene - OMIM - HGNC]
ZFPM2:zinc finger protein, FOG family member 2 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

8q22.3-23.3

Genomic location:

Chr8: 104437051 - 114170843 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1

HGVS:

NC_000008.10:g.(?_104437051)_(114170843_?)del

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000989135	Bionano Laboratories	no assertion criteria provided	Uncertain significance (May 4, 2018)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000989135

Bionano Laboratories

no assertion criteria provided

Uncertain significance
(May 4, 2018)

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Bionano Laboratories, SCV000989135.1

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

Last Updated: Dec 11, 2022

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