NM_000268.4(NF2):c.1052G>A (p.Arg351His) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Mar 16, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001017145.1

Allele description [Variation Report for NM_000268.4(NF2):c.1052G>A (p.Arg351His)]

NM_000268.4(NF2):c.1052G>A (p.Arg351His)

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.1052G>A (p.Arg351His)
HGVS:
  • NC_000022.11:g.29671878G>A
  • NG_009057.1:g.73323G>A
  • NM_000268.3:c.1052G>A
  • NM_000268.4:c.1052G>AMANE SELECT
  • NM_016418.5:c.1052G>A
  • NM_181825.3:c.1052G>A
  • NM_181828.3:c.926G>A
  • NM_181829.3:c.929G>A
  • NM_181830.3:c.803G>A
  • NM_181831.3:c.803G>A
  • NM_181832.3:c.1052G>A
  • NM_181833.3:c.448-22874G>A
  • NP_000259.1:p.Arg351His
  • NP_000259.1:p.Arg351His
  • NP_057502.2:p.Arg351His
  • NP_861546.1:p.Arg351His
  • NP_861966.1:p.Arg309His
  • NP_861967.1:p.Arg310His
  • NP_861968.1:p.Arg268His
  • NP_861969.1:p.Arg268His
  • NP_861970.1:p.Arg351His
  • LRG_511t1:c.1052G>A
  • LRG_511t2:c.1052G>A
  • LRG_511:g.73323G>A
  • LRG_511p1:p.Arg351His
  • LRG_511p2:p.Arg351His
  • NC_000022.10:g.30067867G>A
  • NR_156186.2:n.1534G>A
Protein change:
R268H
Links:
dbSNP: rs771675702
NCBI 1000 Genomes Browser:
rs771675702
Molecular consequence:
  • NM_181833.3:c.448-22874G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.3:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000268.4:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016418.5:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.926G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.929G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.803G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.803G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156186.2:n.1534G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001178180Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Mar 16, 2019)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.

Ahronowitz I, Xin W, Kiely R, Sims K, MacCollin M, Nunes FP.

Hum Mutat. 2007 Jan;28(1):1-12.

PubMed [citation]
PMID:
16983642

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas.

Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst SM.

Hum Mol Genet. 1994 Jun;3(6):885-91.

PubMed [citation]
PMID:
7951231

Details of each submission

From Ambry Genetics, SCV001178180.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.R351H variant (also known as c.1052G>A), located in coding exon 11 of the NF2 gene, results from a G to A substitution at nucleotide position 1052. The arginine at codon 351 is replaced by histidine, an amino acid with highly similar properties. This alteration was reported in a patient with sporadic unilateral vestibular schwannoma and no other tumors (Ahronowitz I et al. Hum. Mutat. 2007 Jan;28:1-12). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

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