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GRCh38/hg38 11p14.3(chr11:22115602-25375696)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:
RCV000052647.6

Allele description [Variation Report for GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1]

GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1

Genes:
  • LOC130005437:ATAC-STARR-seq lymphoblastoid active region 4528 [Gene]
  • LOC130005438:ATAC-STARR-seq lymphoblastoid active region 4529 [Gene]
  • LOC130005439:ATAC-STARR-seq lymphoblastoid active region 4530 [Gene]
  • LOC130005441:ATAC-STARR-seq lymphoblastoid active region 4531 [Gene]
  • LOC130005442:ATAC-STARR-seq lymphoblastoid active region 4532 [Gene]
  • LOC130005443:ATAC-STARR-seq lymphoblastoid active region 4533 [Gene]
  • LOC130005444:ATAC-STARR-seq lymphoblastoid active region 4534 [Gene]
  • LOC130005446:ATAC-STARR-seq lymphoblastoid active region 4537 [Gene]
  • LOC130005447:ATAC-STARR-seq lymphoblastoid active region 4538 [Gene]
  • LOC130005448:ATAC-STARR-seq lymphoblastoid active region 4539 [Gene]
  • LOC130005440:ATAC-STARR-seq lymphoblastoid silent region 3205 [Gene]
  • LOC130005445:ATAC-STARR-seq lymphoblastoid silent region 3206 [Gene]
  • LOC130005449:ATAC-STARR-seq lymphoblastoid silent region 3207 [Gene]
  • LOC126861162:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:22813641-22814840 [Gene]
  • LOC126861163:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:23325332-23326531 [Gene]
  • LOC126861165:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:23901013-23902212 [Gene]
  • FANCF:FA complementation group F [Gene - OMIM - HGNC]
  • LOC126861161:MED14-independent group 3 enhancer GRCh37_chr11:22306158-22307357 [Gene]
  • LOC126861164:MED14-independent group 3 enhancer GRCh37_chr11:23380849-23382048 [Gene]
  • LOC126861167:MED14-independent group 3 enhancer GRCh37_chr11:24768484-24769683 [Gene]
  • LOC132089923:Neanderthal introgressed variant-containing enhancer experimental_20787 [Gene]
  • LOC132089924:Neanderthal introgressed variant-containing enhancer experimental_20815 [Gene]
  • LOC132089925:Neanderthal introgressed variant-containing enhancer experimental_20847 [Gene]
  • LOC132089926:Neanderthal introgressed variant-containing enhancer experimental_20960 [Gene]
  • LOC126861166:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:24718961-24720160 [Gene]
  • SLC17A6-DT:SLC17A6 divergent transcript [Gene - HGNC]
  • LOC113939921:Sharpr-MPRA regulatory region 14851 [Gene]
  • LOC121832789:Sharpr-MPRA regulatory region 1695 [Gene]
  • LOC124421508:Sharpr-MPRA regulatory region 5411 [Gene]
  • ANO5:anoctamin 5 [Gene - OMIM - HGNC]
  • CCDC179:coiled-coil domain containing 179 [Gene - HGNC]
  • GAS2:growth arrest specific 2 [Gene - OMIM - HGNC]
  • LUZP2:leucine zipper protein 2 [Gene - OMIM - HGNC]
  • LINC01495:long intergenic non-protein coding RNA 1495 [Gene - HGNC]
  • LINC02686:long intergenic non-protein coding RNA 2686 [Gene - HGNC]
  • LINC02718:long intergenic non-protein coding RNA 2718 [Gene - HGNC]
  • LINC02726:long intergenic non-protein coding RNA 2726 [Gene - HGNC]
  • MIR8054:microRNA 8054 [Gene - HGNC]
  • SVIP:small VCP interacting protein [Gene - HGNC]
  • SLC17A6:solute carrier family 17 member 6 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11p14.3
Genomic location:
Preferred name:
GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1
HGVS:
  • NC_000011.10:g.(?_22115602)_(25375696_?)del
  • NC_000011.8:g.(?_22093724)_(25353818_?)del
  • NC_000011.9:g.(?_22137148)_(25397242_?)del
Links:
dbVar: nssv577332; dbVar: nsv531362
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
SCV000080001ISCA site 15

See additional submitters

criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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 15, SCV000080001.5

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

Last Updated: May 7, 2024