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NM_000267.3(NF1):c.[4110+1791_7394+859dup;4110+1798del] 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:
RCV000200907.1

Alleles description

NM_000267.3(NF1):c.4110+1791_7394+859dup

Genes:
EVI2A:ecotropic viral integration site 2A [Gene - OMIM - HGNC]
EVI2B:ecotropic viral integration site 2B [Gene - OMIM - HGNC]
OMG:oligodendrocyte myelin glycoprotein [Gene - OMIM - HGNC]
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_000267.3(NF1):c.4110+1791_7394+859dup
HGVS:
  • NC_000017.11:g.31250910_31351177dup
  • NM_000267.3:c.4110+1791_7394+859dup
  • LRG_214t1:c.4110+1791_7394+859dup
  • NC_000017.10:g.29577928_29678195dup

NM_001042492.3(NF1):c.4110+1802del

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.4110+1802del
HGVS:
  • NC_000017.11:g.31250921del
  • NG_009018.1:g.160945del
  • NM_000267.3:c.4110+1802del
  • NM_001042492.3:c.4110+1802delMANE SELECT
  • LRG_214t1:c.4110+1802del
  • LRG_214:g.160945del
  • NC_000017.10:g.29577939del
  • NM_000267.3:c.4110+1798del
Links:
Medical Genomics Laboratory,Department of Genetics UAB: UAB-82; dbSNP: rs863224944
NCBI 1000 Genomes Browser:
rs863224944
Molecular consequence:
  • NM_000267.3:c.4110+1802del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042492.3:c.4110+1802del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000255592Medical Genomics Laboratory,Department of Genetics UAB
no assertion criteria provided
Pathogenicunknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Decoding NF1 Intragenic Copy-Number Variations.

Hsiao MC, Piotrowski A, Callens T, Fu C, Wimmer K, Claes KB, Messiaen L.

Am J Hum Genet. 2015 Aug 6;97(2):238-49. doi: 10.1016/j.ajhg.2015.06.002. Epub 2015 Jul 16.

PubMed [citation]
PMID:
26189818
PMCID:
PMC4573439

Details of each submission

From Medical Genomics Laboratory,Department of Genetics UAB, SCV000255592.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedbloodnot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022