GRCh38/hg38 15q11.1-11.2(chr15:20227627-22308242)x1 AND See cases

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 8, 2011
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:: RCV000136282.5

Allele description [Variation Report for GRCh38/hg38 15q11.1-11.2(chr15:20227627-22308242)x1]

GRCh38/hg38 15q11.1-11.2(chr15:20227627-22308242)x1

Genes:

LOC130056704:ATAC-STARR-seq lymphoblastoid active region 9153 [Gene]
LOC130056705:ATAC-STARR-seq lymphoblastoid silent region 6255 [Gene]
LOC130056706:ATAC-STARR-seq lymphoblastoid silent region 6256 [Gene]
LOC126088093:BRD4-independent group 4 enhancer GRCh37_chr15:22382101-22383300 [Gene]
OR4M2-OT1:OR4M2 overlapping transcript 1 [Gene - HGNC]
POTEB2:POTE ankyrin domain family member B2 [Gene - HGNC]
POTEB3:POTE ankyrin domain family member B3 [Gene - HGNC]
POTEB:POTE ankyrin domain family member B [Gene - OMIM - HGNC]
FAM30C:family with sequence similarity 30 member C [Gene - HGNC]
GOLGA6L6:golgin A6 family like 6 [Gene - HGNC]
LINC01193:long intergenic non-protein coding RNA 1193 [Gene - HGNC]
LINC02203:long intergenic non-protein coding RNA 2203 [Gene - HGNC]
MIR1268A:microRNA 1268a [Gene - HGNC]
MIR3118-2:microRNA 3118-2 [Gene - HGNC]
MIR3118-3:microRNA 3118-3 [Gene - HGNC]
MIR3118-4:microRNA 3118-4 [Gene - HGNC]
MIR5701-1:microRNA 5701-1 [Gene - HGNC]
MIR5701-2:microRNA 5701-2 [Gene - HGNC]
MIR5701-3:microRNA 5701-3 [Gene - HGNC]
OR4M2:olfactory receptor family 4 subfamily M member 2 [Gene - HGNC]
OR4M2B:olfactory receptor family 4 subfamily M member 2B [Gene - HGNC]
OR4N4:olfactory receptor family 4 subfamily N member 4 [Gene - HGNC]
OR4N4C:olfactory receptor family 4 subfamily N member 4C [Gene - HGNC]
LOC102724971:putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [Gene]
LOC107983983:putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [Gene]

Variant type:

copy number loss

Cytogenetic location:

15q11.1-11.2

Genomic location:

Preferred name:

GRCh38/hg38 15q11.1-11.2(chr15:20227627-22308242)x1

HGVS:

NC_000015.10:g.(?_20227627)_(22308242_?)del
NC_000015.8:g.(?_18692894)_(20199832_?)del
NC_000015.9:g.(?_20432880)_(22648468_?)del

Links:

dbVar: nssv707317; dbVar: nsv533578

Observations:

Condition(s)

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

Recent activity

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MAG: 3-hydroxyacyl-CoA dehydrogenase [Desulfobacteraceae bacterium 4572_88]
MAG: 3-hydroxyacyl-CoA dehydrogenase [Desulfobacteraceae bacterium 4572_88]
gi|1176253260|gb|OQY60716.1||gnl|WG K|B6245_00100

Protein
Calyptocephallela gayi isolate 1603CauCau 16S ribosomal RNA gene, partial sequen...
Calyptocephallela gayi isolate 1603CauCau 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|123286041|gb|EF107212.1|

Nucleotide
Streptococcus pneumoniae strain NP7100 isolate 6JSY8 NP7100_contig_96, whole gen...
Streptococcus pneumoniae strain NP7100 isolate 6JSY8 NP7100_contig_96, whole genome shotgun sequence
gi|935440660|ref|NZ_CNZC02000217.1| WGS:NZ_CNZC02|NP7100_contig_96

Nucleotide
Streptococcus pneumoniae strain R34-3073 R34-3073_contig_65, whole genome shotgu...
Streptococcus pneumoniae strain R34-3073 R34-3073_contig_65, whole genome shotgun sequence
gi|935406373|ref|NZ_CNOP02000135.1| WGS:NZ_CNOP02|R34-3073_contig_65

Nucleotide
Streptococcus pneumoniae strain 266035 266035_contig_57, whole genome shotgun se...
Streptococcus pneumoniae strain 266035 266035_contig_57, whole genome shotgun sequence
gi|935424650|ref|NZ_CIDV02000118.1| WGS:NZ_CIDV02|266035_contig_57

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000176344	ISCA site 7 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Benign (Mar 8, 2011)	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

SCV000176344

ISCA site 7

See additional submitters

no assertion criteria provided

Benign
(Mar 8, 2011)

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 7, SCV000176344.3

#	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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