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GRCh37/hg19 17q11.2(chr17:28997893-30391813)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 25, 2022
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:
RCV000683914.4

Allele description [Variation Report for GRCh37/hg19 17q11.2(chr17:28997893-30391813)x1]

GRCh37/hg19 17q11.2(chr17:28997893-30391813)x1

Genes:
  • ATAD5:ATPase family AAA domain containing 5 [Gene - OMIM - HGNC]
  • ADAP2:ArfGAP with dual PH domains 2 [Gene - OMIM - HGNC]
  • RAB11FIP4:RAB11 family interacting protein 4 [Gene - OMIM - HGNC]
  • SUZ12:SUZ12 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
  • UTP6:UTP6 small subunit processome component [Gene - HGNC]
  • COPRS:coordinator of PRMT5 and differentiation stimulator [Gene - HGNC]
  • CRLF3:cytokine receptor like factor 3 [Gene - OMIM - HGNC]
  • EVI2A:ecotropic viral integration site 2A [Gene - OMIM - HGNC]
  • EVI2B:ecotropic viral integration site 2B [Gene - OMIM - HGNC]
  • LRRC37B:leucine rich repeat containing 37B [Gene - OMIM - HGNC]
  • MIR193A:microRNA 193a [Gene - OMIM - HGNC]
  • NF1:neurofibromin 1 [Gene - OMIM - HGNC]
  • OMG:oligodendrocyte myelin glycoprotein [Gene - OMIM - HGNC]
  • RNF135:ring finger protein 135 [Gene - OMIM - HGNC]
  • TEFM:transcription elongation factor, mitochondrial [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17q11.2
Genomic location:
Chr17: 28997893 - 30391813 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17q11.2(chr17:28997893-30391813)x1
HGVS:
NC_000017.10:g.(?_28997893)_(30391813_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000811423Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)		Pathogenic
(Aug 25, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000811423.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The 17q11.2 deletion interval involves several genes, including NF1 (OMIM 613113), and is associated with chromosome 17q11.2 deletion syndrome (OMIM 613675; Jenne et al., Am J Hum Genet. 2001 Sep;69(3):516-27. PMID: 11468690; Mautner et al., J Med Genet. 2010 Sep;47(9):623-30. PMID: 20543202; Pasmant et al., Hum Mutat. 2010 Jun;31(6):E1506-18. PMID: 20513137; GeneReviews [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1109/). Based on current literature, this copy number variant is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 4, 2024