NM_000268.3(NF2):c.1219C>T (p.Gln407Ter) AND Neurofibromatosis, type 2

Clinical significance:Pathogenic (Last evaluated: Aug 1, 1994)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000003454.2

Allele description [Variation Report for NM_000268.3(NF2):c.1219C>T (p.Gln407Ter)]

NM_000268.3(NF2):c.1219C>T (p.Gln407Ter)

Gene:
NF2:neurofibromin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_000268.3(NF2):c.1219C>T (p.Gln407Ter)
HGVS:
  • NC_000022.11:g.29673365C>T
  • NG_009057.1:g.74810C>T
  • NM_000268.3:c.1219C>T
  • NM_016418.5:c.1219C>T
  • NM_181825.2:c.1219C>T
  • NM_181828.2:c.1093C>T
  • NM_181829.2:c.1096C>T
  • NM_181830.2:c.970C>T
  • NM_181831.2:c.970C>T
  • NM_181832.2:c.1219C>T
  • NP_000259.1:p.Gln407Ter
  • NP_057502.2:p.Gln407Ter
  • NP_861546.1:p.Gln407Ter
  • NP_861966.1:p.Gln365Ter
  • NP_861967.1:p.Gln366Ter
  • NP_861968.1:p.Gln324Ter
  • NP_861969.1:p.Gln324Ter
  • NP_861970.1:p.Gln407Ter
  • LRG_511t1:c.1219C>T
  • LRG_511t2:c.1219C>T
  • LRG_511:g.74810C>T
  • LRG_511p1:p.Gln407Ter
  • LRG_511p2:p.Gln407Ter
  • NC_000022.10:g.30069354C>T
Protein change:
Q324*; GLN407TER
Links:
OMIM: 607379.0012; dbSNP: 74315501
NCBI 1000 Genomes Browser:
rs74315501
Molecular consequence:
  • NM_000268.3:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Neurofibromatosis, type 2 (NF2)
Identifiers:
MedGen: C0027832; Orphanet: 637; OMIM: 101000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023612OMIMno assertion criteria providedPathogenic
(Aug 1, 1994)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes 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, SCV000023612.1

#EthnicityIndividualsChromosomes 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 1219 in exon 12, resulting in a stop codon at position 407.

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

Last Updated: Dec 19, 2017