GRCh37/hg19 10q26.3(chr10:132468363-135367666)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
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:: RCV000446777.4

Allele description [Variation Report for GRCh37/hg19 10q26.3(chr10:132468363-135367666)x1]

GRCh37/hg19 10q26.3(chr10:132468363-135367666)x1

Genes:

ADAM8:ADAM metallopeptidase domain 8 [Gene - OMIM - HGNC]
BNIP3:BCL2 interacting protein 3 [Gene - OMIM - HGNC]
JAKMIP3:Janus kinase and microtubule interacting protein 3 [Gene - OMIM - HGNC]
NKX6-2:NK6 homeobox 2 [Gene - OMIM - HGNC]
PWWP2B:PWWP domain containing 2B [Gene - HGNC]
TCERG1L-AS1:TCERG1L antisense RNA 1 [Gene - HGNC]
VENTX:VENT homeobox [Gene - OMIM - HGNC]
ADGRA1:adhesion G protein-coupled receptor A1 [Gene - OMIM - HGNC]
CALY:calcyon neuron specific vesicular protein [Gene - OMIM - HGNC]
CFAP46:cilia and flagella associated protein 46 [Gene - OMIM - HGNC]
CYP2E1:cytochrome P450 family 2 subfamily E member 1 [Gene - OMIM - HGNC]
DPYSL4:dihydropyrimidinase like 4 [Gene - OMIM - HGNC]
ECHS1:enoyl-CoA hydratase, short chain 1 [Gene - OMIM - HGNC]
FUOM:fucose mutarotase [Gene - OMIM - HGNC]
INPP5A:inositol polyphosphate-5-phosphatase A [Gene - OMIM - HGNC]
KNDC1:kinase non-catalytic C-lobe domain containing 1 [Gene - OMIM - HGNC]
LRRC27:leucine rich repeat containing 27 [Gene - HGNC]
LINC01166:long intergenic non-protein coding RNA 1166 [Gene - HGNC]
LINC02870:long intergenic non-protein coding RNA 2870 [Gene - HGNC]
MTG1:mitochondrial ribosome associated GTPase 1 [Gene - HGNC]
PAOX:polyamine oxidase [Gene - OMIM - HGNC]
PRAP1:proline rich acidic protein 1 [Gene - OMIM - HGNC]
PPP2R2D:protein phosphatase 2 regulatory subunit Bdelta [Gene - OMIM - HGNC]
STK32C:serine/threonine kinase 32C [Gene - HGNC]
SPRN:shadow of prion protein [Gene - OMIM - HGNC]
SYCE1:synaptonemal complex central element protein 1 [Gene - OMIM - HGNC]
TCERG1L:transcription elongation regulator 1 like [Gene - OMIM - HGNC]
TUBGCP2:tubulin gamma complex component 2 [Gene - OMIM - HGNC]
UTF1:undifferentiated embryonic cell transcription factor 1 [Gene - OMIM - HGNC]
ZNF511:zinc finger protein 511 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

10q26.3

Genomic location:

Chr10: 132468363 - 135367666 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 10q26.3(chr10:132468363-135367666)x1

HGVS:

NC_000010.10:g.(?_132468363)_(135367666_?)del

Links:

dbVar: nssv13644594; dbVar: nsv2775538

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
SCV000500510	ISCA Site 6 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic	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

SCV000500510

ISCA Site 6

See additional submitters

no assertion criteria provided

Pathogenic

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 6, SCV000500510.1

#	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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