GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 20, 2016
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:: RCV000240024.2

Allele description [Variation Report for GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1]

GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1

Genes:

AGAP10:ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 [Gene]
AGAP9:ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 [Gene - HGNC]
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
FRMPD2:FERM and PDZ domain containing 2 [Gene - OMIM - HGNC]
GPRIN2:G protein regulated inducer of neurite outgrowth 2 [Gene - OMIM - HGNC]
ARHGAP22:Rho GTPase activating protein 22 [Gene - OMIM - HGNC]
VSTM4:V-set and transmembrane domain containing 4 [Gene - HGNC]
WDFY4:WDFY family member 4 [Gene - OMIM - HGNC]
ANXA8L1:annexin A8 like 1 [Gene - HGNC]
ANXA8:annexin A8 [Gene - OMIM - HGNC]
CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
C10orf53:chromosome 10 open reading frame 53 [Gene - HGNC]
C10orf71:chromosome 10 open reading frame 71 [Gene - HGNC]
DRGX:dorsal root ganglia homeobox [Gene - OMIM - HGNC]
FAM170B:family with sequence similarity 170 member B [Gene - HGNC]
FAM25C:family with sequence similarity 25 member C [Gene - HGNC]
FAM25G:family with sequence similarity 25 member G [Gene - HGNC]
GDF10:growth differentiation factor 10 [Gene - OMIM - HGNC]
GDF2:growth differentiation factor 2 [Gene - OMIM - HGNC]
LRRC18:leucine rich repeat containing 18 [Gene - OMIM - HGNC]
MAPK8:mitogen-activated protein kinase 8 [Gene - OMIM - HGNC]
NPY4R:neuropeptide Y receptor Y4 [Gene - OMIM - HGNC]
OGDHL:oxoglutarate dehydrogenase L [Gene - OMIM - HGNC]
PGBD3:piggyBac transposable element derived 3 [Gene - HGNC]
PARG:poly(ADP-ribose) glycohydrolase [Gene - OMIM - HGNC]
PTPN20:protein tyrosine phosphatase non-receptor type 20 [Gene - OMIM - HGNC]
RBP3:retinol binding protein 3 [Gene - OMIM - HGNC]
SLC18A3:solute carrier family 18 member A3 [Gene - OMIM - HGNC]
SYT15:synaptotagmin 15 [Gene - OMIM - HGNC]
TMEM273:transmembrane protein 273 [Gene - HGNC]
ZNF488:zinc finger protein 488 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

10q11.22-11.23

Genomic location:

Chr10: 46491169 - 51081560 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1

HGVS:

NC_000010.10:g.(?_46491169)_(51081560_?)del

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
SCV000298682	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jan 20, 2016)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000298682

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jan 20, 2016)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000298682.3

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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