NM_000267.3(NF1):c.1732_1733insT (p.Tyr580Leufs) AND Neurofibromatosis, type 1

Clinical significance:Pathogenic (Last evaluated: Nov 2, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000168460.1

Allele description

NM_000267.3(NF1):c.1732_1733insT (p.Tyr580Leufs)

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_000267.3(NF1):c.1732_1733insT (p.Tyr580Leufs)
HGVS:
  • NC_000017.11:g.31223455dupT
  • NM_000267.3:c.1732_1733insT
  • NP_000258.1:p.Tyr580Leufs
  • NP_001035957.1:p.Tyr580Leufs
  • LRG_214t1:c.1732_1733insT
  • LRG_214t2:c.1733dupT
  • LRG_214:g.133479dupT
  • LRG_214p1:p.Tyr580Leufs
  • LRG_214p2:p.Tyr580Leufs
  • NC_000017.10:g.29550473dupT
  • NC_000017.11:g.31223454_31223455insT
Links:
dbSNP: rs786204255
NCBI 1000 Genomes Browser:
rs786204255
Molecular consequence:
  • NM_000267.3:c.1732_1733insT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neurofibromatosis, type 1 (NF1)
Synonyms:
NEUROFIBROMATOSIS, TYPE I; NEUROFIBROMATOSIS, PERIPHERAL TYPE; Neurofibromatosis-Noonan syndrome; See all synonyms [MedGen]
Identifiers:
MedGen: C0027831; Orphanet: 636; OMIM: 162200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000219159Invitaecriteria provided, single submitter
Pathogenic
(Nov 2, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Invitae, SCV000219159.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This sequence change inserts 1 nucleotide in exon 16 of the NF1 mRNA (c.1732_1733insT), causing a frameshift at codon 580. This creates a premature translational stop signal (p.Tyr580Leufs*8) and is expected to result in an absent or disrupted protein product. While this particular insertion has not been reported in the literature, truncating mutations in NF1 are known to be pathogenic (PMID: 10712197).

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

Last Updated: Apr 27, 2018