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GRCh38/hg38 1q44(chr1:244222222-245502219)x1 AND See cases

Germline classification:
Pathogenic (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:
RCV000054062.5

Allele description [Variation Report for GRCh38/hg38 1q44(chr1:244222222-245502219)x1]

GRCh38/hg38 1q44(chr1:244222222-245502219)x1

Genes:
  • LOC129932897:ATAC-STARR-seq lymphoblastoid active region 2836 [Gene]
  • LOC129932898:ATAC-STARR-seq lymphoblastoid active region 2837 [Gene]
  • LOC129932899:ATAC-STARR-seq lymphoblastoid active region 2838 [Gene]
  • LOC129932900:ATAC-STARR-seq lymphoblastoid active region 2839 [Gene]
  • LOC129932904:ATAC-STARR-seq lymphoblastoid active region 2840 [Gene]
  • LOC129932905:ATAC-STARR-seq lymphoblastoid active region 2841 [Gene]
  • LOC129932907:ATAC-STARR-seq lymphoblastoid active region 2844 [Gene]
  • LOC129932908:ATAC-STARR-seq lymphoblastoid active region 2845 [Gene]
  • LOC129932910:ATAC-STARR-seq lymphoblastoid active region 2846 [Gene]
  • LOC129932915:ATAC-STARR-seq lymphoblastoid active region 2848 [Gene]
  • LOC129932921:ATAC-STARR-seq lymphoblastoid active region 2849 [Gene]
  • LOC129932901:ATAC-STARR-seq lymphoblastoid silent region 2013 [Gene]
  • LOC129932902:ATAC-STARR-seq lymphoblastoid silent region 2014 [Gene]
  • LOC129932903:ATAC-STARR-seq lymphoblastoid silent region 2015 [Gene]
  • LOC129932906:ATAC-STARR-seq lymphoblastoid silent region 2016 [Gene]
  • LOC129932909:ATAC-STARR-seq lymphoblastoid silent region 2017 [Gene]
  • LOC129932911:ATAC-STARR-seq lymphoblastoid silent region 2018 [Gene]
  • LOC129932912:ATAC-STARR-seq lymphoblastoid silent region 2019 [Gene]
  • LOC129932913:ATAC-STARR-seq lymphoblastoid silent region 2020 [Gene]
  • LOC129932914:ATAC-STARR-seq lymphoblastoid silent region 2022 [Gene]
  • LOC129932916:ATAC-STARR-seq lymphoblastoid silent region 2023 [Gene]
  • LOC129932917:ATAC-STARR-seq lymphoblastoid silent region 2024 [Gene]
  • LOC129932918:ATAC-STARR-seq lymphoblastoid silent region 2025 [Gene]
  • LOC129932919:ATAC-STARR-seq lymphoblastoid silent region 2026 [Gene]
  • LOC129932920:ATAC-STARR-seq lymphoblastoid silent region 2027 [Gene]
  • LOC129932922:ATAC-STARR-seq lymphoblastoid silent region 2029 [Gene]
  • LOC126806076:BRD4-independent group 4 enhancer GRCh37_chr1:244623002-244624201 [Gene]
  • LOC126806079:BRD4-independent group 4 enhancer GRCh37_chr1:245376557-245377756 [Gene]
  • LOC126806080:BRD4-independent group 4 enhancer GRCh37_chr1:245630817-245632016 [Gene]
  • LOC126806078:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:245248413-245249612 [Gene]
  • EFCAB2:EF-hand calcium binding domain 2 [Gene - OMIM - HGNC]
  • KIF26B-AS1:KIF26B antisense RNA 1 [Gene - HGNC]
  • LOC126806075:MED14-independent group 3 enhancer GRCh37_chr1:244402369-244403568 [Gene]
  • LOC126806077:MED14-independent group 3 enhancer GRCh37_chr1:244898381-244899580 [Gene]
  • LOC129388800:MPRA-validated peak807 silencer [Gene]
  • LOC129388801:MPRA-validated peak808 silencer [Gene]
  • LOC129388802:MPRA-validated peak809 silencer [Gene]
  • LOC122152355:Sharpr-MPRA regulatory region 12100 [Gene]
  • LOC111828504:Sharpr-MPRA regulatory regions 872 and 4511 [Gene]
  • ADSS2:adenylosuccinate synthase 2 [Gene - OMIM - HGNC]
  • CATSPERE:catsper channel auxiliary subunit epsilon [Gene - OMIM - HGNC]
  • C1orf202:chromosome 1 open reading frame 202 [Gene - HGNC]
  • COX20:cytochrome c oxidase assembly factor COX20 [Gene - OMIM - HGNC]
  • DESI2:desumoylating isopeptidase 2 [Gene - OMIM - HGNC]
  • HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]
  • KIF26B:kinesin family member 26B [Gene - OMIM - HGNC]
  • SNORA100:small nucleolar RNA, H/ACA box 100 [Gene - HGNC]
  • SPMIP3:sperm microtubule inner protein 3 [Gene - HGNC]
  • LOC101928068:uncharacterized LOC101928068 [Gene]
Variant type:
copy number loss
Cytogenetic location:
1q44
Genomic location:
Preferred name:
GRCh38/hg38 1q44(chr1:244222222-245502219)x1
HGVS:
  • NC_000001.11:g.(?_244222222)_(245502219_?)del
  • NC_000001.10:g.(?_244385524)_(245665521_?)del
  • NC_000001.9:g.(?_242452147)_(243732144_?)del
Links:
dbVar: nssv577273; dbVar: nsv532730
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000081426ISCA site 17

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical 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 17, SCV000081426.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024