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NM_001042492.3(NF1):c.5546_5553del (p.Asp1849fs) AND Neurofibromatosis, type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 2, 2017
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:
RCV000497089.1

Allele description [Variation Report for NM_001042492.3(NF1):c.5546_5553del (p.Asp1849fs)]

NM_001042492.3(NF1):c.5546_5553del (p.Asp1849fs)

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.5546_5553del (p.Asp1849fs)
HGVS:
  • NC_000017.11:g.31327776_31327783del
  • NG_009018.1:g.237800_237807del
  • NM_000267.3:c.5483_5490del
  • NM_001042492.3:c.5546_5553delMANE SELECT
  • NP_000258.1:p.Asp1828fs
  • NP_001035957.1:p.Asp1849fs
  • NP_001035957.1:p.Asp1849fs
  • LRG_214t1:c.5483_5490del
  • LRG_214t2:c.5546_5553del
  • LRG_214:g.237800_237807del
  • LRG_214p1:p.Asp1828fs
  • LRG_214p2:p.Asp1849fs
  • NC_000017.10:g.29654794_29654801del
  • NM_001042492.2:c.5546_5553del
Protein change:
D1828fs
Links:
dbSNP: rs1135402873
NCBI 1000 Genomes Browser:
rs1135402873
Molecular consequence:
  • NM_000267.3:c.5483_5490del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042492.3:c.5546_5553del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000588801Medical Genetics, University of Parma
no assertion criteria provided
Pathogenic
(Feb 2, 2017)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Medical Genetics, University of Parma, SCV000588801.1

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

Last Updated: Apr 23, 2022