GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 12, 2011
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:: RCV000051129.7

Allele description [Variation Report for GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3]

GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3

Genes:

LOC129930419:ATAC-STARR-seq lymphoblastoid active region 943 [Gene]
LOC129930420:ATAC-STARR-seq lymphoblastoid active region 944 [Gene]
LOC129930422:ATAC-STARR-seq lymphoblastoid active region 945 [Gene]
LOC129930425:ATAC-STARR-seq lymphoblastoid active region 949 [Gene]
LOC129930426:ATAC-STARR-seq lymphoblastoid active region 953 [Gene]
LOC129930429:ATAC-STARR-seq lymphoblastoid active region 956 [Gene]
LOC129930432:ATAC-STARR-seq lymphoblastoid active region 958 [Gene]
LOC129930433:ATAC-STARR-seq lymphoblastoid active region 959 [Gene]
LOC129930418:ATAC-STARR-seq lymphoblastoid silent region 816 [Gene]
LOC129930421:ATAC-STARR-seq lymphoblastoid silent region 817 [Gene]
LOC129930423:ATAC-STARR-seq lymphoblastoid silent region 818 [Gene]
LOC129930424:ATAC-STARR-seq lymphoblastoid silent region 820 [Gene]
LOC129930427:ATAC-STARR-seq lymphoblastoid silent region 821 [Gene]
LOC129930428:ATAC-STARR-seq lymphoblastoid silent region 822 [Gene]
LOC129930430:ATAC-STARR-seq lymphoblastoid silent region 824 [Gene]
LOC129930431:ATAC-STARR-seq lymphoblastoid silent region 825 [Gene]
BTBD19:BTB domain containing 19 [Gene - HGNC]
HECTD3:HECT domain E3 ubiquitin protein ligase 3 [Gene - OMIM - HGNC]
LOC129388506:MPRA-validated peak197 silencer [Gene]
LOC129388507:MPRA-validated peak198 silencer [Gene]
LOC126805727:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:45272786-45273985 [Gene]
RNU5D-1:RNA, U5D small nuclear 1 [Gene - OMIM - HGNC]
RNU5F-1:RNA, U5F small nuclear 1 [Gene - OMIM - HGNC]
LOC112590799:Sharpr-MPRA regulatory region 10410 [Gene]
LOC122056856:Sharpr-MPRA regulatory region 12642 [Gene]
LOC122056855:Sharpr-MPRA regulatory region 12667 [Gene]
ARMH1:armadillo like helical domain containing 1 [Gene - HGNC]
BEST4:bestrophin 4 [Gene - OMIM - HGNC]
DYNLT4:dynein light chain Tctex-type 4 [Gene - OMIM - HGNC]
EIF2B3:eukaryotic translation initiation factor 2B subunit gamma [Gene - OMIM - HGNC]
KIF2C:kinesin family member 2C [Gene - OMIM - HGNC]
PTCH2:patched 2 [Gene - OMIM - HGNC]
PLK3:polo like kinase 3 [Gene - OMIM - HGNC]
RPS8:ribosomal protein S8 [Gene - OMIM - HGNC]
SNORD160:small nucleolar RNA, C/D box 160 [Gene - HGNC]
SNORD38A:small nucleolar RNA, C/D box 38A [Gene - HGNC]
SNORD38B:small nucleolar RNA, C/D box 38B [Gene - HGNC]
SNORD46:small nucleolar RNA, C/D box 46 [Gene - HGNC]
SNORD55:small nucleolar RNA, C/D box 55 [Gene - HGNC]
UROD:uroporphyrinogen decarboxylase [Gene - OMIM - HGNC]
ZSWIM5:zinc finger SWIM-type containing 5 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3

HGVS:

NC_000001.11:g.(?_44713837)_(45282899_?)dup
NC_000001.10:g.(?_45179509)_(45748571_?)dup
NC_000001.9:g.(?_44952096)_(45521158_?)dup

Links:

dbVar: nssv580699; dbVar: nsv529677

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
SCV000190860	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Uncertain significance (Aug 12, 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

SCV000190860

ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))

Uncertain significance
(Aug 12, 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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]

PMID:: 21844811
PMCID:: PMC3661946

Details of each submission

From ISCA site 4, SCV000190860.2

#	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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