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NC_000017.11:g.30660608_31159168inv AND Neurofibromatosis, type 1

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:
RCV002223747.2

Allele description [Variation Report for NC_000017.11:g.30660608_31159168inv]

NC_000017.11:g.30660608_31159168inv

Genes:
  • LOC130060642:ATAC-STARR-seq lymphoblastoid active region 12000 [Gene]
  • LOC130060643:ATAC-STARR-seq lymphoblastoid active region 12001 [Gene]
  • LOC130060644:ATAC-STARR-seq lymphoblastoid active region 12002 [Gene]
  • LOC130060648:ATAC-STARR-seq lymphoblastoid active region 12003 [Gene]
  • LOC130060650:ATAC-STARR-seq lymphoblastoid active region 12004 [Gene]
  • LOC130060651:ATAC-STARR-seq lymphoblastoid active region 12005 [Gene]
  • LOC130060652:ATAC-STARR-seq lymphoblastoid active region 12007 [Gene]
  • LOC130060645:ATAC-STARR-seq lymphoblastoid silent region 8402 [Gene]
  • LOC130060646:ATAC-STARR-seq lymphoblastoid silent region 8403 [Gene]
  • LOC130060647:ATAC-STARR-seq lymphoblastoid silent region 8404 [Gene]
  • LOC130060649:ATAC-STARR-seq lymphoblastoid silent region 8405 [Gene]
  • LOC130060653:ATAC-STARR-seq lymphoblastoid silent region 8407 [Gene]
  • ATAD5:ATPase family AAA domain containing 5 [Gene - OMIM - HGNC]
  • ADAP2:ArfGAP with dual PH domains 2 [Gene - OMIM - HGNC]
  • MIR4733HG:MIR4733 host gene [Gene - HGNC]
  • LOC129390850:MPRA-validated peak2795 silencer [Gene]
  • LOC129390851:MPRA-validated peak2796 silencer [Gene]
  • LOC111811965:NF1 (neurofibromin 1) promoter region [Gene]
  • LOC108281169:NF1 intron 1 Alu-mediated recombination region [Gene]
  • LOC108281170:NF1 intron 2 Alu-mediated recombination region [Gene]
  • LOC108771181:NF1-REPa PRS2 recombination region [Gene]
  • LOC108783647:NF1-REPb PRS3 recombination region [Gene]
  • LOC108783652:SUZ12P1 PRS4 recombination region [Gene]
  • LOC121587585:Sharpr-MPRA regulatory region 4018 [Gene]
  • CRLF3:cytokine receptor like factor 3 [Gene - OMIM - HGNC]
  • MIR4733:microRNA 4733 [Gene - HGNC]
  • NF1:neurofibromin 1 [Gene - OMIM - HGNC]
  • RNF135:ring finger protein 135 [Gene - OMIM - HGNC]
  • TEFM:transcription elongation factor, mitochondrial [Gene - OMIM - HGNC]
Variant type:
Inversion
Cytogenetic location:
17q11.2
Genomic location:
Chr17: 30660608 - 31159168 (on Assembly GRCh38)
Preferred name:
NC_000017.11:g.30660608_31159168inv
HGVS:
NC_000017.11:g.30660608_31159168inv
Observations:
1

Condition(s)

Name:
Neurofibromatosis, type 1 (NF1)
Synonyms:
NEUROFIBROMATOSIS, TYPE I; Recklinghausen's disease; Von Recklinghausen disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002499651Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
no assertion criteria provided
Pathogenicde novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiande novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital, SCV002499651.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 14, 2023