NM_000268.4(NF2):c.1604T>C (p.Leu535Pro) AND Neurofibromatosis, type 2

Clinical significance:Pathogenic (Last evaluated: Jun 1, 1995)

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:
RCV000003447.2

Allele description [Variation Report for NM_000268.4(NF2):c.1604T>C (p.Leu535Pro)]

NM_000268.4(NF2):c.1604T>C (p.Leu535Pro)

Gene:
NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_000268.4(NF2):c.1604T>C (p.Leu535Pro)
HGVS:
  • NC_000022.11:g.29681468T>C
  • NG_009057.1:g.82913T>C
  • NM_000268.4:c.1604T>CMANE SELECT
  • NM_016418.5:c.1604T>C
  • NM_181825.3:c.1604T>C
  • NM_181828.3:c.1478T>C
  • NM_181829.3:c.1481T>C
  • NM_181830.3:c.1355T>C
  • NM_181831.3:c.1355T>C
  • NM_181832.3:c.1604T>C
  • NM_181833.3:c.448-13284T>C
  • NP_000259.1:p.Leu535Pro
  • NP_057502.2:p.Leu535Pro
  • NP_861546.1:p.Leu535Pro
  • NP_861966.1:p.Leu493Pro
  • NP_861967.1:p.Leu494Pro
  • NP_861968.1:p.Leu452Pro
  • NP_861969.1:p.Leu452Pro
  • NP_861970.1:p.Leu535Pro
  • LRG_511t2:c.1604T>C
  • LRG_511:g.82913T>C
  • LRG_511p2:p.Leu535Pro
  • NC_000022.10:g.30077457T>C
  • NR_156186.2:n.2086T>C
  • P35240:p.Leu535Pro
Protein change:
L452P; LEU535PRO
Links:
UniProtKB: P35240#VAR_000825; OMIM: 607379.0005; dbSNP: rs74315493
NCBI 1000 Genomes Browser:
rs74315493
Molecular consequence:
  • NM_181833.3:c.448-13284T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.4:c.1604T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016418.5:c.1604T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1604T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.1478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.1481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.1355T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.1355T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1604T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156186.2:n.2086T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Neurofibromatosis, type 2 (NF2)
Synonyms:
NF 2; Neurofibromatosis central type; Acoustic schwannomas bilateral; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007039; MedGen: C0027832; Orphanet: 637; OMIM: 101000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023605OMIMno assertion criteria providedPathogenic
(Jun 1, 1995)
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

Diagnostic issues in a family with late onset type 2 neurofibromatosis.

Evans DG, Bourn D, Wallace A, Ramsden RT, Mitchell JD, Strachan T.

J Med Genet. 1995 Jun;32(6):470-4.

PubMed [citation]
PMID:
7666400
PMCID:
PMC1050488

Details of each submission

From OMIM, SCV000023605.1

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

Description

Evans et al. (1995) reported a family with type II neurofibromatosis (101000) and late-onset tumors. Hearing loss developed late in life in 5 members of the family, 2 of whom were first shown to have NF2 in their 70s. Three other obligate gene carriers died undiagnosed at ages 64, 72, and 78 years of age. Evans et al. (1995) demonstrated a missense mutation at the C-terminal end of the NF2 protein; a T-to-C transition at nucleotide 1604 caused a leu535-to-pro amino acid substitution.

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

Last Updated: Oct 24, 2021

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