GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1 AND See cases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 29, 2016
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:: RCV000512276.3

Allele description [Variation Report for GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1]

GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1

Genes:

ACAP1:ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 [Gene - OMIM - HGNC]
CTDNEP1:CTD nuclear envelope phosphatase 1 [Gene - OMIM - HGNC]
GPS2:G protein pathway suppressor 2 [Gene - OMIM - HGNC]
GABARAP:GABA type A receptor-associated protein [Gene - OMIM - HGNC]
PHF23:PHD finger protein 23 [Gene - OMIM - HGNC]
POLR2A:RNA polymerase II subunit A [Gene - OMIM - HGNC]
SPEM2:SPEM family member 2 [Gene - HGNC]
YBX2:Y-box binding protein 2 [Gene - OMIM - HGNC]
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
CHRNB1:cholinergic receptor nicotinic beta 1 subunit [Gene - OMIM - HGNC]
CLDN7:claudin 7 [Gene - OMIM - HGNC]
DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]
DVL2:dishevelled segment polarity protein 2 [Gene - OMIM - HGNC]
ELP5:elongator acetyltransferase complex subunit 5 [Gene - OMIM - HGNC]
EIF5A:eukaryotic translation initiation factor 5A [Gene - OMIM - HGNC]
FGF11:fibroblast growth factor 11 [Gene - OMIM - HGNC]
NEURL4:neuralized E3 ubiquitin protein ligase 4 [Gene - OMIM - HGNC]
NLGN2:neuroligin 2 [Gene - OMIM - HGNC]
PLSCR3:phospholipid scramblase 3 [Gene - OMIM - HGNC]
KCTD11:potassium channel tetramerization domain containing 11 [Gene - OMIM - HGNC]
SLC2A4:solute carrier family 2 member 4 [Gene - OMIM - HGNC]
SLC35G6:solute carrier family 35 member G6 [Gene - HGNC]
SPEM1:spermatid maturation 1 [Gene - OMIM - HGNC]
TMEM102:transmembrane protein 102 [Gene - OMIM - HGNC]
TMEM256:transmembrane protein 256 [Gene - OMIM - HGNC]
TMEM95:transmembrane protein 95 [Gene - OMIM - HGNC]
TNK1:tyrosine kinase non receptor 1 [Gene - OMIM - HGNC]
ZBTB4:zinc finger and BTB domain containing 4 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

17p13.1

Genomic location:

Chr17: 7094070 - 7414448 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1

HGVS:

NC_000017.10:g.(?_7094070)_(7414448_?)del

Links:

dbVar: nssv13647412; dbVar: nssv13656527; dbVar: nsv2771942

Observations:

Condition(s)

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

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gi|339636670|emb|FR874850.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000584903	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Likely pathogenic (Feb 29, 2016)	de novo, 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

SCV000584903

ISCA site 1

See additional submitters

no assertion criteria provided

Likely pathogenic
(Feb 29, 2016)

de novo, 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	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing
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 1, SCV000584903.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)
2	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	de novo	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
2	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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