GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 15, 2015
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:: RCV000512069.3

Allele description [Variation Report for GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1]

GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1

Genes:

ADPRHL1:ADP-ribosylhydrolase like 1 [Gene - OMIM - HGNC]
ANKRD10-IT1:ANKRD10 intronic transcript 1 [Gene - HGNC]
ATP11AUN:ATP11A upstream neighbor lncRNA [Gene - HGNC]
ATP4B:ATPase H+/K+ transporting subunit beta [Gene - OMIM - HGNC]
ATP11A:ATPase phospholipid transporting 11A [Gene - OMIM - HGNC]
MCF2L:MCF.2 cell line derived transforming sequence like [Gene - OMIM - HGNC]
NAXD:NAD(P)HX dehydratase [Gene - OMIM - HGNC]
PCID2:PCI domain containing 2 [Gene - OMIM - HGNC]
RAB20:RAB20, member RAS oncogene family [Gene - HGNC]
RASA3:RAS p21 protein activator 3 [Gene - OMIM - HGNC]
ARHGEF7:Rho guanine nucleotide exchange factor 7 [Gene - OMIM - HGNC]
SOX1:SRY-box transcription factor 1 [Gene - OMIM - HGNC]
SWINGN:SWI/SNF complex interacting GAS6 enhancer non-coding RNA [Gene - HGNC]
UPF3A:UPF3A regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
ANKRD10:ankyrin repeat domain 10 [Gene - HGNC]
CDC16:cell division cycle 16 [Gene - OMIM - HGNC]
CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]
F7:coagulation factor VII [Gene - OMIM - HGNC]
F10:coagulation factor X [Gene - OMIM - HGNC]
COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]
COL4A2:collagen type IV alpha 2 chain [Gene - OMIM - HGNC]
CUL4A:cullin 4A [Gene - OMIM - HGNC]
CARS2:cysteinyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
DCUN1D2:defective in cullin neddylation 1 domain containing 2 [Gene - HGNC]
GAS6:growth arrest specific 6 [Gene - OMIM - HGNC]
GRTP1:growth hormone regulated TBC protein 1 [Gene - HGNC]
ING1:inhibitor of growth family member 1 [Gene - OMIM - HGNC]
IRS2:insulin receptor substrate 2 [Gene - OMIM - HGNC]
LINC00567:long intergenic non-protein coding RNA 567 [Gene - HGNC]
LAMP1:lysosomal associated membrane protein 1 [Gene - OMIM - HGNC]
MYO16:myosin XVI [Gene - OMIM - HGNC]
PROZ:protein Z, vitamin K dependent plasma glycoprotein [Gene - OMIM - HGNC]
SPACA7:sperm acrosome associated 7 [Gene - HGNC]
TEX29:testis expressed 29 [Gene - HGNC]
TFDP1:transcription factor Dp-1 [Gene - OMIM - HGNC]
TMCO3:transmembrane and coiled-coil domains 3 [Gene - OMIM - HGNC]
TMEM255B:transmembrane protein 255B [Gene - HGNC]
TUBGCP3:tubulin gamma complex component 3 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

13q33.3-34

Genomic location:

Chr13: 109151651 - 115107733 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1

HGVS:

NC_000013.10:g.(?_109151651)_(115107733_?)del

Links:

dbVar: nssv13638782; dbVar: nsv2769283

Observations:

Condition(s)

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

Recent activity

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heterogeneous nuclear ribonucleoprotein H3 isoform X3 [Ovis aries]
heterogeneous nuclear ribonucleoprotein H3 isoform X3 [Ovis aries]
gi|2062863441|ref|XP_042096713.1|

Protein
Bos taurus
Bos taurus
Bos taurus Raw sequence reads

BioProject
Methanosarcina sp. MTP4
Methanosarcina sp. MTP4
Methanogenic archaea and the global carbon cycle

BioProject

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000584385	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Jul 15, 2015)	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

SCV000584385

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Jul 15, 2015)

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
human	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 1, SCV000584385.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	human	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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