U.S. flag

An official website of the United States government

GRCh37/hg19 17q11.2(chr17:28993036-30412788) AND Chromosome 17q11.2 deletion syndrome, 1.4Mb

Germline classification:
Pathogenic (1 submission)
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:
RCV002280633.1

Allele description [Variation Report for GRCh37/hg19 17q11.2(chr17:28993036-30412788)]

GRCh37/hg19 17q11.2(chr17:28993036-30412788)

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: 28993036 - 30412788 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17q11.2(chr17:28993036-30412788)

Condition(s)

Name:
Chromosome 17q11.2 deletion syndrome, 1.4Mb
Synonyms:
NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4 MB; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013357; MedGen: C5401456; Orphanet: 139474; Orphanet: 636; OMIM: 613675

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002568971Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
no assertion criteria provided
Pathogenicunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002568971.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023