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GRCh38/hg38 1q41(chr1:216396695-217549806)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:
RCV000053952.6

Allele description [Variation Report for GRCh38/hg38 1q41(chr1:216396695-217549806)x1]

GRCh38/hg38 1q41(chr1:216396695-217549806)x1

Genes:
  • LOC129932506:ATAC-STARR-seq lymphoblastoid active region 2536 [Gene]
  • LOC129932505:ATAC-STARR-seq lymphoblastoid silent region 1817 [Gene]
  • LOC129932507:ATAC-STARR-seq lymphoblastoid silent region 1818 [Gene]
  • GPATCH2:G-patch domain containing 2 [Gene - OMIM - HGNC]
  • LOC129388750:MPRA-validated peak697 silencer [Gene]
  • LOC132088649:Neanderthal introgressed variant-containing enhancer experimental_4286 [Gene]
  • LOC132088650:Neanderthal introgressed variant-containing enhancer experimental_4347 [Gene]
  • LOC132088651:Neanderthal introgressed variant-containing enhancer experimental_4384 [Gene]
  • LOC132088652:Neanderthal introgressed variant-containing enhancer experimental_4410 [Gene]
  • LOC132088653:Neanderthal introgressed variant-containing enhancer experimental_4481 [Gene]
  • LOC122152297:Sharpr-MPRA regulatory region 11696 [Gene]
  • LOC120908907:Sharpr-MPRA regulatory region 1545 [Gene]
  • LOC122152298:Sharpr-MPRA regulatory region 1921 [Gene]
  • ESRRG:estrogen related receptor gamma [Gene - OMIM - HGNC]
  • USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q41
Genomic location:
Preferred name:
GRCh38/hg38 1q41(chr1:216396695-217549806)x1
HGVS:
  • NC_000001.11:g.(?_216396695)_(217549806_?)del
  • NC_000001.10:g.(?_216570037)_(217723148_?)del
  • NC_000001.9:g.(?_214636660)_(215789771_?)del
Links:
dbVar: nssv577242; dbVar: nsv532620
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
SCV000081315GeneDx
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 GeneDx, SCV000081315.6

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

Last Updated: Oct 14, 2023