NM_000268.3(NF2):c.1613A>C (p.Gln538Pro) AND Neurofibromatosis, type 2

Clinical significance:Pathogenic (Last evaluated: Feb 1, 1996)

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:
RCV000003448.2

Allele description [Variation Report for NM_000268.3(NF2):c.1613A>C (p.Gln538Pro)]

NM_000268.3(NF2):c.1613A>C (p.Gln538Pro)

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.1613A>C (p.Gln538Pro)
HGVS:
  • NC_000022.11:g.29681477A>C
  • NG_009057.1:g.82922A>C
  • NM_000268.3:c.1613A>C
  • NM_016418.5:c.1613A>C
  • NM_181833.2:c.448-13275A>C
  • NP_000259.1:p.Gln538Pro
  • NP_057502.2:p.Gln538Pro
  • LRG_511t1:c.1613A>C
  • LRG_511t2:c.1613A>C
  • LRG_511:g.82922A>C
  • LRG_511p1:p.Gln538Pro
  • LRG_511p2:p.Gln538Pro
  • NC_000022.10:g.30077466A>C
  • P35240:p.Gln538Pro
Protein change:
Q538P; GLN538PRO
Links:
UniProtKB: P35240#VAR_000826; OMIM: 607379.0006; dbSNP: 74315494
NCBI 1000 Genomes Browser:
rs74315494
Molecular consequence:
  • NM_181833.2:c.448-13275A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.3:c.1613A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000023606OMIMno assertion criteria providedPathogenic
(Feb 1, 1996)
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

A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.

Kluwe L, Mautner VF.

Hum Genet. 1996 Feb;97(2):224-7.

PubMed [citation]
PMID:
8566958

Details of each submission

From OMIM, SCV000023606.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family in which 4 members were affected with NF2 (101000), Kluwe and Mautner (1996) found a gln538-to-pro mutation in exon 15 of the NF2 gene by studying lymphocyte DNA. They suggested that missense mutations such as this were rare. Although both of the 2 affected members of the family who were studied developed bilateral vestibular schwannomas, the first showed onset of the disease at the age of 31 years and presented with various central, peripheral, and abdominal tumors, while the second patient showed later onset of clinical symptoms (at age 52 years) and presented with only 2 additional small spinal tumors.

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

Last Updated: May 3, 2018