GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 30, 2010
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:: RCV000136785.5

Allele description [Variation Report for GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3]

GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3

Genes:

LOC130067533:ATAC-STARR-seq lymphoblastoid active region 19109 [Gene]
LOC130067534:ATAC-STARR-seq lymphoblastoid active region 19110 [Gene]
LOC130067535:ATAC-STARR-seq lymphoblastoid active region 19111 [Gene]
LOC130067536:ATAC-STARR-seq lymphoblastoid active region 19112 [Gene]
LOC130067539:ATAC-STARR-seq lymphoblastoid active region 19113 [Gene]
LOC130067541:ATAC-STARR-seq lymphoblastoid active region 19114 [Gene]
LOC130067543:ATAC-STARR-seq lymphoblastoid active region 19117 [Gene]
LOC130067544:ATAC-STARR-seq lymphoblastoid active region 19118 [Gene]
LOC130067546:ATAC-STARR-seq lymphoblastoid active region 19122 [Gene]
LOC130067547:ATAC-STARR-seq lymphoblastoid active region 19123 [Gene]
LOC130067548:ATAC-STARR-seq lymphoblastoid active region 19124 [Gene]
LOC130067549:ATAC-STARR-seq lymphoblastoid active region 19125 [Gene]
LOC130067550:ATAC-STARR-seq lymphoblastoid active region 19126 [Gene]
LOC130067551:ATAC-STARR-seq lymphoblastoid active region 19127 [Gene]
LOC130067552:ATAC-STARR-seq lymphoblastoid active region 19128 [Gene]
LOC130067554:ATAC-STARR-seq lymphoblastoid active region 19129 [Gene]
LOC130067555:ATAC-STARR-seq lymphoblastoid active region 19130 [Gene]
LOC130067556:ATAC-STARR-seq lymphoblastoid active region 19131 [Gene]
LOC130067557:ATAC-STARR-seq lymphoblastoid active region 19132 [Gene]
LOC130067558:ATAC-STARR-seq lymphoblastoid active region 19133 [Gene]
LOC130067560:ATAC-STARR-seq lymphoblastoid active region 19136 [Gene]
LOC130067567:ATAC-STARR-seq lymphoblastoid active region 19138 [Gene]
LOC130067568:ATAC-STARR-seq lymphoblastoid active region 19139 [Gene]
LOC130067570:ATAC-STARR-seq lymphoblastoid active region 19140 [Gene]
LOC130067571:ATAC-STARR-seq lymphoblastoid active region 19141 [Gene]
LOC130067573:ATAC-STARR-seq lymphoblastoid active region 19142 [Gene]
LOC130067575:ATAC-STARR-seq lymphoblastoid active region 19143 [Gene]
LOC130067576:ATAC-STARR-seq lymphoblastoid active region 19144 [Gene]
LOC130067577:ATAC-STARR-seq lymphoblastoid active region 19150 [Gene]
LOC130067578:ATAC-STARR-seq lymphoblastoid active region 19151 [Gene]
LOC130067581:ATAC-STARR-seq lymphoblastoid active region 19152 [Gene]
LOC130067583:ATAC-STARR-seq lymphoblastoid active region 19153 [Gene]
LOC130067584:ATAC-STARR-seq lymphoblastoid active region 19154 [Gene]
LOC130067585:ATAC-STARR-seq lymphoblastoid active region 19155 [Gene]
LOC130067590:ATAC-STARR-seq lymphoblastoid active region 19156 [Gene]
LOC130067591:ATAC-STARR-seq lymphoblastoid active region 19160 [Gene]
LOC130067592:ATAC-STARR-seq lymphoblastoid active region 19161 [Gene]
LOC130067537:ATAC-STARR-seq lymphoblastoid silent region 13783 [Gene]
LOC130067538:ATAC-STARR-seq lymphoblastoid silent region 13785 [Gene]
LOC130067540:ATAC-STARR-seq lymphoblastoid silent region 13788 [Gene]
LOC130067542:ATAC-STARR-seq lymphoblastoid silent region 13791 [Gene]
LOC130067545:ATAC-STARR-seq lymphoblastoid silent region 13794 [Gene]
LOC130067553:ATAC-STARR-seq lymphoblastoid silent region 13796 [Gene]
LOC130067559:ATAC-STARR-seq lymphoblastoid silent region 13798 [Gene]
LOC130067561:ATAC-STARR-seq lymphoblastoid silent region 13800 [Gene]
LOC130067562:ATAC-STARR-seq lymphoblastoid silent region 13801 [Gene]
LOC130067563:ATAC-STARR-seq lymphoblastoid silent region 13802 [Gene]
LOC130067564:ATAC-STARR-seq lymphoblastoid silent region 13803 [Gene]
LOC130067565:ATAC-STARR-seq lymphoblastoid silent region 13804 [Gene]
LOC130067566:ATAC-STARR-seq lymphoblastoid silent region 13810 [Gene]
LOC130067569:ATAC-STARR-seq lymphoblastoid silent region 13811 [Gene]
LOC130067572:ATAC-STARR-seq lymphoblastoid silent region 13812 [Gene]
LOC130067574:ATAC-STARR-seq lymphoblastoid silent region 13813 [Gene]
LOC130067579:ATAC-STARR-seq lymphoblastoid silent region 13815 [Gene]
LOC130067580:ATAC-STARR-seq lymphoblastoid silent region 13816 [Gene]
LOC130067582:ATAC-STARR-seq lymphoblastoid silent region 13818 [Gene]
LOC130067586:ATAC-STARR-seq lymphoblastoid silent region 13820 [Gene]
LOC130067587:ATAC-STARR-seq lymphoblastoid silent region 13821 [Gene]
LOC130067588:ATAC-STARR-seq lymphoblastoid silent region 13822 [Gene]
LOC130067589:ATAC-STARR-seq lymphoblastoid silent region 13823 [Gene]
LOC108348030:CAGE-defined B cell enhancer downstream of CENPM [Gene]
LOC126863159:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:42396708-42397907 [Gene]
LOC126863160:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:42462918-42464117 [Gene]
LOC110740341:CYP2D6 downstream enhancer [Gene]
LOC110740340:CYP2D6 promoter [Gene]
LOC111562373:HNF4 motif-containing MPRA enhancer 178 [Gene]
NDUFA6:NADH:ubiquinone oxidoreductase subunit A6 [Gene - OMIM - HGNC]
NDUFA6-DT:NDUFA6 divergent transcript [Gene - HGNC]
NFAM1:NFAT activating protein with ITAM motif 1 [Gene - OMIM - HGNC]
PHETA2:PH domain containing endocytic trafficking adaptor 2 [Gene - OMIM - HGNC]
PHF5A:PHD finger protein 5A [Gene - OMIM - HGNC]
POLR3H:RNA polymerase III subunit H [Gene - OMIM - HGNC]
RANGAP1:Ran GTPase activating protein 1 [Gene - OMIM - HGNC]
SREBF2-AS1:SREBF2 antisense RNA 1 [Gene - HGNC]
LOC125446243:Sharpr-MPRA regulatory region 10804 [Gene]
LOC112695097:Sharpr-MPRA regulatory region 14092 [Gene]
LOC125446248:Sharpr-MPRA regulatory region 1538 [Gene]
LOC121627946:Sharpr-MPRA regulatory region 3167 [Gene]
LOC125446244:Sharpr-MPRA regulatory region 5669 [Gene]
LOC125446246:Sharpr-MPRA regulatory region 6008 [Gene]
LOC112695099:Sharpr-MPRA regulatory region 6115 [Gene]
LOC112695098:Sharpr-MPRA regulatory region 731 [Gene]
LOC125446247:Sharpr-MPRA regulatory region 7943 [Gene]
LOC121627945:Sharpr-MPRA regulatory region 9842 [Gene]
TEF:TEF transcription factor, PAR bZIP family member [Gene - OMIM - HGNC]
TNFRSF13C:TNF receptor superfamily member 13C [Gene - OMIM - HGNC]
WBP2NL:WBP2 N-terminal like [Gene - OMIM - HGNC]
XRCC6:X-ray repair cross complementing 6 [Gene - OMIM - HGNC]
ACO2:aconitase 2 [Gene - OMIM - HGNC]
NAGA:alpha-N-acetylgalactosaminidase [Gene - OMIM - HGNC]
CENPM:centromere protein M [Gene - OMIM - HGNC]
CCDC134:coiled-coil domain containing 134 [Gene - OMIM - HGNC]
CSDC2:cold shock domain containing C2 [Gene - OMIM - HGNC]
CYP2D6:cytochrome P450 family 2 subfamily D member 6 [Gene - OMIM - HGNC]
CYP2D7:cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene) [Gene - HGNC]
DESI1:desumoylating isopeptidase 1 [Gene - OMIM - HGNC]
LINC01315:long intergenic non-protein coding RNA 1315 [Gene - HGNC]
MEI1:meiotic double-stranded break formation protein 1 [Gene - OMIM - HGNC]
MIR33A:microRNA 33a [Gene - OMIM - HGNC]
MIR378I:microRNA 378i [Gene - HGNC]
PMM1:phosphomannomutase 1 [Gene - OMIM - HGNC]
SEPTIN3:septin 3 [Gene - OMIM - HGNC]
SHISA8:shisa family member 8 [Gene - OMIM - HGNC]
SMDT1:single-pass membrane protein with aspartate rich tail 1 [Gene - OMIM - HGNC]
SMIM45:small integral membrane protein 45 [Gene - HGNC]
SNU13:small nuclear ribonucleoprotein 13 [Gene - OMIM - HGNC]
SREBF2:sterol regulatory element binding transcription factor 2 [Gene - OMIM - HGNC]
TCF20:transcription factor 20 [Gene - OMIM - HGNC]
TOB2:transducer of ERBB2, 2 [Gene - OMIM - HGNC]
LOC105373044:uncharacterized LOC105373044 [Gene]
ZC3H7B:zinc finger CCCH-type containing 7B [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

22q13.2

Genomic location:

Preferred name:

GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3

HGVS:

NC_000022.11:g.(?_41277822)_(42414957_?)dup
NC_000022.10:g.(?_41673826)_(42810963_?)dup
NC_000022.9:g.(?_40003772)_(41140907_?)dup

Links:

dbVar: nssv582156; dbVar: nsv534132

Observations:

Condition(s)

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

Recent activity

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NADH dehydrogenase subunit F, partial (chloroplast) [Cuprella antiatlantica]
NADH dehydrogenase subunit F, partial (chloroplast) [Cuprella antiatlantica]
gi|786320527|gb|AKA20489.1|

Protein
Rastrelliger faughni KAUM:I:80696 mitochondrial gene for 12S rRNA, partial seque...
Rastrelliger faughni KAUM:I:80696 mitochondrial gene for 12S rRNA, partial sequence
gi|1391895054|dbj|LC385310.1|

Nucleotide
Grallaria rufula rufula voucher USNM:411894 skeletal muscle receptor tyrosine ki...
Grallaria rufula rufula voucher USNM:411894 skeletal muscle receptor tyrosine kinase (MUSK) gene, intron 5
gi|1917171850|gb|MN977705.1|

Nucleotide
bin.836
bin.836

biosample
Homo sapiens phosphatidylinositol glycan anchor biosynthesis class Q (PIGQ), Ref...
Homo sapiens phosphatidylinositol glycan anchor biosynthesis class Q (PIGQ), RefSeqGene on chromosome 16
gi|667751619|ref|NG_034206.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000176908	ISCA site 8 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Jan 30, 2010)	unknown	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

SCV000176908

ISCA site 8

See additional submitters

no assertion criteria provided

Pathogenic
(Jan 30, 2010)

unknown

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

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]

PMID:: 20466091
PMCID:: PMC2869000

Details of each submission

From ISCA site 8, SCV000176908.3

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

Last Updated: May 7, 2024

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