NM_000268.4(NF2):c.1253G>A (p.Arg418His) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Sep 23, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000569005.2

Allele description [Variation Report for NM_000268.4(NF2):c.1253G>A (p.Arg418His)]

NM_000268.4(NF2):c.1253G>A (p.Arg418His)

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.1253G>A (p.Arg418His)
HGVS:
  • NC_000022.11:g.29673399G>A
  • NG_009057.1:g.74844G>A
  • NM_000268.3:c.1253G>A
  • NM_000268.4:c.1253G>AMANE SELECT
  • NM_016418.5:c.1253G>A
  • NM_181825.3:c.1253G>A
  • NM_181828.3:c.1127G>A
  • NM_181829.3:c.1130G>A
  • NM_181830.3:c.1004G>A
  • NM_181831.3:c.1004G>A
  • NM_181832.3:c.1253G>A
  • NM_181833.3:c.448-21353G>A
  • NP_000259.1:p.Arg418His
  • NP_000259.1:p.Arg418His
  • NP_057502.2:p.Arg418His
  • NP_861546.1:p.Arg418His
  • NP_861966.1:p.Arg376His
  • NP_861967.1:p.Arg377His
  • NP_861968.1:p.Arg335His
  • NP_861969.1:p.Arg335His
  • NP_861970.1:p.Arg418His
  • LRG_511t1:c.1253G>A
  • LRG_511t2:c.1253G>A
  • LRG_511:g.74844G>A
  • LRG_511p1:p.Arg418His
  • LRG_511p2:p.Arg418His
  • NC_000022.10:g.30069388G>A
  • NR_156186.2:n.1735G>A
Protein change:
R335H
Links:
dbSNP: rs548217466
NCBI 1000 Genomes Browser:
rs548217466
Molecular consequence:
  • NM_181833.3:c.448-21353G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.3:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000268.4:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016418.5:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.1127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156186.2:n.1735G>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
SCV000674149Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Sep 23, 2020)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Exon scanning for mutation of the NF2 gene in schwannomas.

Jacoby LB, MacCollin M, Louis DN, Mohney T, Rubio MP, Pulaski K, Trofatter JA, Kley N, Seizinger B, Ramesh V, et al.

Hum Mol Genet. 1994 Mar;3(3):413-9.

PubMed [citation]
PMID:
8012353

Details of each submission

From Ambry Genetics, SCV000674149.3

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

Description

The p.R418H variant (also known as c.1253G>A), located in coding exon 12 of the NF2 gene, results from a G to A substitution at nucleotide position 1253. The arginine at codon 418 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well 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: Nov 27, 2021

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