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GRCh38/hg38 1q44(chr1:247682929-248622297)x3 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 21, 2012
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:
RCV000138963.5

Allele description [Variation Report for GRCh38/hg38 1q44(chr1:247682929-248622297)x3]

GRCh38/hg38 1q44(chr1:247682929-248622297)x3

Genes:
  • LOC126806088:BRD4-independent group 4 enhancer GRCh37_chr1:248349804-248351003 [Gene]
  • LOC115804254:CRISPRi-validated cis-regulatory element chr1.12967 [Gene]
  • LOC129388811:MPRA-validated peak836 silencer [Gene]
  • LOC129388812:MPRA-validated peak838 silencer [Gene]
  • LOC129388813:MPRA-validated peak839 silencer [Gene]
  • OR1C1:olfactory receptor family 1 subfamily C member 1 [Gene - HGNC]
  • OR11L1:olfactory receptor family 11 subfamily L member 1 [Gene - HGNC]
  • OR14A16:olfactory receptor family 14 subfamily A member 16 [Gene - HGNC]
  • OR14A2:olfactory receptor family 14 subfamily A member 2 [Gene - HGNC]
  • OR14C36:olfactory receptor family 14 subfamily C member 36 [Gene - HGNC]
  • OR14K1:olfactory receptor family 14 subfamily K member 1 [Gene - HGNC]
  • OR2AJ1:olfactory receptor family 2 subfamily AJ member 1 [Gene - HGNC]
  • OR2AK2:olfactory receptor family 2 subfamily AK member 2 [Gene - HGNC]
  • OR2G6:olfactory receptor family 2 subfamily G member 6 [Gene - HGNC]
  • OR2L13:olfactory receptor family 2 subfamily L member 13 [Gene - HGNC]
  • OR2L2:olfactory receptor family 2 subfamily L member 2 [Gene - HGNC]
  • OR2L3:olfactory receptor family 2 subfamily L member 3 [Gene - HGNC]
  • OR2L5:olfactory receptor family 2 subfamily L member 5 [Gene - HGNC]
  • OR2L8:olfactory receptor family 2 subfamily L member 8 [Gene - HGNC]
  • OR2M2:olfactory receptor family 2 subfamily M member 2 [Gene - HGNC]
  • OR2M3:olfactory receptor family 2 subfamily M member 3 [Gene - HGNC]
  • OR2M4:olfactory receptor family 2 subfamily M member 4 [Gene - HGNC]
  • OR2M5:olfactory receptor family 2 subfamily M member 5 [Gene - HGNC]
  • OR2M7:olfactory receptor family 2 subfamily M member 7 [Gene - OMIM - HGNC]
  • OR2T10:olfactory receptor family 2 subfamily T member 10 [Gene - HGNC]
  • OR2T12:olfactory receptor family 2 subfamily T member 12 [Gene - HGNC]
  • OR2T1:olfactory receptor family 2 subfamily T member 1 [Gene - HGNC]
  • OR2T29:olfactory receptor family 2 subfamily T member 29 [Gene - HGNC]
  • OR2T2:olfactory receptor family 2 subfamily T member 2 [Gene - HGNC]
  • OR2T33:olfactory receptor family 2 subfamily T member 33 [Gene - HGNC]
  • OR2T34:olfactory receptor family 2 subfamily T member 34 [Gene - HGNC]
  • OR2T3:olfactory receptor family 2 subfamily T member 3 [Gene - HGNC]
  • OR2T4:olfactory receptor family 2 subfamily T member 4 [Gene - HGNC]
  • OR2T5:olfactory receptor family 2 subfamily T member 5 [Gene - HGNC]
  • OR2T6:olfactory receptor family 2 subfamily T member 6 [Gene - HGNC]
  • OR2T7:olfactory receptor family 2 subfamily T member 7 [Gene - HGNC]
  • OR2T8:olfactory receptor family 2 subfamily T member 8 [Gene - HGNC]
  • OR2W3:olfactory receptor family 2 subfamily W member 3 [Gene - OMIM - HGNC]
  • OR6F1:olfactory receptor family 6 subfamily F member 1 [Gene - HGNC]
  • OR9H1P:olfactory receptor family 9 subfamily H member 1 pseudogene [Gene - HGNC]
  • TRIM58:tripartite motif containing 58 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1q44
Genomic location:
Preferred name:
GRCh38/hg38 1q44(chr1:247682929-248622297)x3
HGVS:
  • NC_000001.11:g.(?_247682929)_(248622297_?)dup
  • NC_000001.10:g.(?_247846231)_(248785598_?)dup
  • NC_000001.9:g.(?_245912854)_(246852221_?)dup
Links:
dbVar: nssv1603161; dbVar: nsv916290
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
SCV000179421ISCA site 4

See additional submitters

no assertion criteria provided
Benign
(Sep 21, 2012) 		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

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 4, SCV000179421.3

#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