GRCh38/hg38 8q21.13(chr8:75021712-78044590)x3 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 12, 2011
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:: RCV000052184.5

Allele description [Variation Report for GRCh38/hg38 8q21.13(chr8:75021712-78044590)x3]

GRCh38/hg38 8q21.13(chr8:75021712-78044590)x3

Genes:

LOC130000625:ATAC-STARR-seq lymphoblastoid active region 27543 [Gene]
LOC130000626:ATAC-STARR-seq lymphoblastoid active region 27544 [Gene]
LOC130000623:ATAC-STARR-seq lymphoblastoid silent region 19302 [Gene]
LOC130000624:ATAC-STARR-seq lymphoblastoid silent region 19303 [Gene]
LOC130000627:ATAC-STARR-seq lymphoblastoid silent region 19304 [Gene]
LOC130000628:ATAC-STARR-seq lymphoblastoid silent region 19305 [Gene]
LOC130000629:ATAC-STARR-seq lymphoblastoid silent region 19306 [Gene]
LOC126860423:BRD4-independent group 4 enhancer GRCh37_chr8:76312357-76313556 [Gene]
LOC126860422:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:76190151-76191350 [Gene]
LOC129390013:MPRA-validated peak7079 silencer [Gene]
LOC113788293:Sharpr-MPRA regulatory region 11833 [Gene]
LOC124174280:Sharpr-MPRA regulatory region 13261 [Gene]
LOC124174281:Sharpr-MPRA regulatory region 233 [Gene]
LOC110121054:VISTA enhancer hs1318 [Gene]
LOC110121096:VISTA enhancer hs1422 [Gene]
LOC110121186:VISTA enhancer hs1681 [Gene]
LOC110120756:VISTA enhancer hs742 [Gene]
LOC110120766:VISTA enhancer hs774 [Gene]
LOC110120797:VISTA enhancer hs891 [Gene]
ZFHX4-AS1:ZFHX4 antisense RNA 1 [Gene - HGNC]
CASC9:cancer susceptibility 9 [Gene - HGNC]
CRISPLD1:cysteine rich secretory protein LCCL domain containing 1 [Gene - HGNC]
HNF4G:hepatocyte nuclear factor 4 gamma [Gene - OMIM - HGNC]
LINC01109:long intergenic non-protein coding RNA 1109 [Gene - HGNC]
LINC01111:long intergenic non-protein coding RNA 1111 [Gene - HGNC]
MIR3149:microRNA 3149 [Gene - HGNC]
PEX2:peroxisomal biogenesis factor 2 [Gene - OMIM - HGNC]
LOC102724874:uncharacterized LOC102724874 [Gene]
ZFHX4:zinc finger homeobox 4 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

8q21.13

Genomic location:

Preferred name:

GRCh38/hg38 8q21.13(chr8:75021712-78044590)x3

HGVS:

NC_000008.11:g.(?_75021712)_(78044590_?)dup
NC_000008.10:g.(?_75933947)_(78956825_?)dup
NC_000008.9:g.(?_76096502)_(79119380_?)dup

Links:

dbVar: nssv581332; dbVar: nsv530896

Observations:

Condition(s)

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

Recent activity

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Rattus norvegicus zinc finger protein 277 (Zfp277), mRNA
Rattus norvegicus zinc finger protein 277 (Zfp277), mRNA
gi|2177419346|ref|NM_001399663.1|

Nucleotide
ATP synthase F1 complex gamma subunit, partial [Longitibia sp. NMBS Ichn-2423]
ATP synthase F1 complex gamma subunit, partial [Longitibia sp. NMBS Ichn-2423]
gi|1950491723|gb|QQG34453.1|

Protein
DA115188 BRACE3 Homo sapiens cDNA clone BRACE3034085 5', mRNA sequence
DA115188 BRACE3 Homo sapiens cDNA clone BRACE3034085 5', mRNA sequence
gi|80469439|gnl|dbEST|33138272|dbj| 188.1|

Nucleotide
hypothetical protein, partial [Longitibia sp. NMBS Ichn-2423]
hypothetical protein, partial [Longitibia sp. NMBS Ichn-2423]
gi|1955912992|gb|QQO99267.1|

Protein
Homo sapiens SMG6 nonsense mediated mRNA decay factor (SMG6), RefSeqGene on chro...
Homo sapiens SMG6 nonsense mediated mRNA decay factor (SMG6), RefSeqGene on chromosome 17
gi|587651955|ref|NG_033980.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000079533	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Uncertain significance (Aug 12, 2011)	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

SCV000079533

GeneDx

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))

Uncertain significance
(Aug 12, 2011)

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
not provided	paternal	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]

PMID:: 21844811
PMCID:: PMC3661946

Details of each submission

From GeneDx, SCV000079533.5

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

Last Updated: Oct 14, 2023

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