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GRCh37/hg19 15q26.3(chr15:101238481-102429112)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 23, 2014
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:
RCV000512205.2

Allele description [Variation Report for GRCh37/hg19 15q26.3(chr15:101238481-102429112)x1]

GRCh37/hg19 15q26.3(chr15:101238481-102429112)x1

Genes:
  • TM2D3:TM2 domain containing 3 [Gene - OMIM - HGNC]
  • ALDH1A3:aldehyde dehydrogenase 1 family member A3 [Gene - OMIM - HGNC]
  • CHSY1:chondroitin sulfate synthase 1 [Gene - OMIM - HGNC]
  • LRRK1:leucine rich repeat kinase 1 [Gene - OMIM - HGNC]
  • OR4F15:olfactory receptor family 4 subfamily F member 15 [Gene - HGNC]
  • OR4F6:olfactory receptor family 4 subfamily F member 6 [Gene - HGNC]
  • PCSK6:proprotein convertase subtilisin/kexin type 6 [Gene - OMIM - HGNC]
  • SELENOS:selenoprotein S [Gene - OMIM - HGNC]
  • SNRPA1:small nuclear ribonucleoprotein polypeptide A' [Gene - OMIM - HGNC]
  • TARS3:threonyl-tRNA synthetase 3 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
15q26.3
Genomic location:
Chr15: 101238481 - 102429112 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q26.3(chr15:101238481-102429112)x1
HGVS:
NC_000015.9:g.(?_101238481)_(102429112_?)del
Links:
dbVar: nssv13645260; dbVar: nsv2769255
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
SCV000584379ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jun 23, 2014) 		not providedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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 1, SCV000584379.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Apr 23, 2022