GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2018
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:: RCV000767657.1

Allele description [Variation Report for GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471)]

GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471)

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]
MSMB:microseminoprotein beta [Gene - OMIM - HGNC]
MAPK8:mitogen-activated protein kinase 8 [Gene - OMIM - HGNC]
NPY4R:neuropeptide Y receptor Y4 [Gene - OMIM - HGNC]
NCOA4:nuclear receptor coactivator 4 [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]
TIMM23:translocase of inner mitochondrial membrane 23 [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: 46544810 - 51743471 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471)

HGVS:

NC_000010.10:g.(?_46544810)_(51743471_?)del

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000898279	Baylor Genetics	criteria provided, single submitter (ACMG CNV Guidelines, 2011)	Pathogenic (Nov 1, 2018)	maternal	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

SCV000898279

Baylor Genetics

criteria provided, single submitter

(ACMG CNV Guidelines, 2011)

Pathogenic
(Nov 1, 2018)

maternal

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	maternal	unknown	2	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]

PMID:: 21681106

Details of each submission

From Baylor Genetics, SCV000898279.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

Description

Deletions involving this region have been previously reported in patients with developmental delay and intellectual disability [PMID: 21948486]

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	unknown	not provided	not provided	not provided		2	not provided	1	not provided

Last Updated: Mar 26, 2023

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