current
NF2:c.1387G>T (p.Glu463Ter) AND Neurofibromatosis, type 2
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In a study of 33 unrelated patients with NF2 (101000), MacCollin et al. (1994) identified a G-to-T substitution at nucleotide 1387 in exon 13, resulting in a stop codon at position 463.
7913580
NF2:c.1387G>T (p.Glu463Ter)
LRG_511t1:c.1387G>T
LRG_511t2:c.1387G>T
NM_016418.5:c.1387G>T
NM_000268.3:c.1387G>T
NM_181833.2:c.448-19870G>T
LRG_511:g.76327G>T
NG_009057.1:g.76327G>T
NC_000022.10:g.30070871G>T
LRG_511p2:p.Glu463Ter
NP_000259.1:p.Glu463Ter
NP_057502.2:p.Glu463Ter
STOP-GAIN
STOP-GAIN
intron
E463*
GLU463TER
22q12.2
neurofibromin 2 (merlin)
NF2
Neurofibromatosis, type 2
NF 2
Neurofibromatosis central type
Acoustic schwannomas bilateral
Bilateral acoustic neurofibromatosis
Acoustic neurinoma bilateral
Neurofibromatosis type II
NF2
BANF
ACN
Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Posterior subcapsular lens opacities that rarely progress to a visually significant cataract are the most common ocular findings and may be the first sign of NF2. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy, a squint (third nerve palsy), or hand/foot drop.
Autosomal dominant inheritance
Variable
loss of function
1-9 / 100 000
1: 30,000
http://services.medicine.uab.edu/publicdocuments/genetics/images/10%20NF2%20Test4.pdf
12235555
20301380
23788249
current
Pathogenic
germline
human
not provided
curation
In a study of 33 unrelated patients with NF2 (101000), MacCollin et al. (1994) identified a G-to-T substitution at nucleotide 1387 in exon 13, resulting in a stop codon at position 463.
7913580
NF2, GLU463TER
GLU463TER
NF2
NEUROFIBROMATOSIS, TYPE II