NM_000268.4(NF2):c.1053C>T (p.Arg351=) AND Neurofibromatosis, type 2

Clinical significance:Uncertain significance (Last evaluated: Nov 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000268.4(NF2):c.1053C>T (p.Arg351=)]

NM_000268.4(NF2):c.1053C>T (p.Arg351=)

NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000268.4(NF2):c.1053C>T (p.Arg351=)
  • NC_000022.11:g.29671879C>T
  • NG_009057.1:g.73324C>T
  • NM_000268.3:c.1053C>T
  • NM_000268.4:c.1053C>TMANE SELECT
  • NM_016418.5:c.1053C>T
  • NM_181825.3:c.1053C>T
  • NM_181828.3:c.927C>T
  • NM_181829.3:c.930C>T
  • NM_181830.3:c.804C>T
  • NM_181831.3:c.804C>T
  • NM_181832.3:c.1053C>T
  • NM_181833.3:c.448-22873C>T
  • NP_000259.1:p.Arg351=
  • NP_000259.1:p.Arg351=
  • NP_057502.2:p.Arg351=
  • NP_861546.1:p.Arg351=
  • NP_861966.1:p.Arg309=
  • NP_861967.1:p.Arg310=
  • NP_861968.1:p.Arg268=
  • NP_861969.1:p.Arg268=
  • NP_861970.1:p.Arg351=
  • LRG_511t1:c.1053C>T
  • LRG_511t2:c.1053C>T
  • LRG_511:g.73324C>T
  • LRG_511p1:p.Arg351=
  • LRG_511p2:p.Arg351=
  • NC_000022.10:g.30067868C>T
  • NR_156186.2:n.1535C>T
dbSNP: rs1179494821
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_181833.3:c.448-22873C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_156186.2:n.1535C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000268.3:c.1053C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000268.4:c.1053C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016418.5:c.1053C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181825.3:c.1053C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181828.3:c.927C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181829.3:c.930C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181830.3:c.804C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181831.3:c.804C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181832.3:c.1053C>T - synonymous variant - [Sequence Ontology: SO:0001819]


Neurofibromatosis, type 2 (NF2)
NF 2; Neurofibromatosis central type; Acoustic schwannomas bilateral; See all synonyms [MedGen]
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)
SCV000829023Invitaecriteria provided, single submitter
Uncertain significance
(Nov 14, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing



Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

Details of each submission

From Invitae, SCV000829023.3

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


This sequence change affects codon 351 of the NF2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NF2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF2-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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