NM_000268.3(NF2):c.784C>T (p.Arg262Ter) AND Neurofibromatosis, type 2

Clinical significance:Pathogenic (Last evaluated: Mar 14, 2013)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000003451.1

Allele description [Variation Report for NM_000268.3(NF2):c.784C>T (p.Arg262Ter)]

Gene:
NF2:neurofibromin 2 (merlin) [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_000268.3(NF2):c.784C>T (p.Arg262Ter)
HGVS:
  • NC_000022.11:g.29661313C>T
  • NG_009057.1:g.62758C>T
  • NM_000268.3:c.784C>T
  • NM_016418.5:c.784C>T
  • NM_181833.2:c.447+19028C>T
  • NP_000259.1:p.Arg262Ter
  • NP_057502.2:p.Arg262Ter
  • LRG_511t1:c.784C>T
  • LRG_511t2:c.784C>T
  • LRG_511:g.62758C>T
  • LRG_511p1:p.Arg262Ter
  • LRG_511p2:p.Arg262Ter
  • NC_000022.10:g.30057302C>T
Protein change:
R262*; ARG262TER
Links:
OMIM: 607379.0009; dbSNP: 74315496
NCBI 1000 Genomes Browser:
rs74315496
Molecular consequence:
  • NM_181833.2:c.447+19028C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.3:c.784C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Neurofibromatosis, type 2 (NF2)
Synonyms:
NF 2; Neurofibromatosis central type; Acoustic schwannomas bilateral; See all synonyms [MedGen]
Identifiers:
MedGen: C0027832; Orphanet: 637; OMIM: 101000
Age of onset:
Variable
Prevalence:

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000023609OMIMPathogenic
(Mar 14, 2013)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutational analysis of patients with neurofibromatosis 2.

MacCollin M, Ramesh V, Jacoby LB, Louis DN, Rubio MP, Pulaski K, Trofatter JA, Short MP, Bove C, Eldridge R, et al.

Am J Hum Genet. 1994 Aug;55(2):314-20.

PubMed [citation]
PMID:
7913580
PMCID:
PMC1918355

Details of each submission

From OMIM, SCV000023609.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a study of 33 unrelated patients with NF2 (101000), MacCollin et al. (1994) identified a C-to-T substitution at nucleotide 784 in exon 8, resulting in a stop codon at position 262.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 18, 2014

Write to the Help Desk