NM_000268.4(NF2):c.1702_1703del (p.Arg568fs) AND Neurofibromatosis, type 2

Clinical significance:Uncertain significance (Last evaluated: Nov 6, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000808513.3

Allele description [Variation Report for NM_000268.4(NF2):c.1702_1703del (p.Arg568fs)]

NM_000268.4(NF2):c.1702_1703del (p.Arg568fs)

Gene:
NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_000268.4(NF2):c.1702_1703del (p.Arg568fs)
HGVS:
  • NC_000022.11:g.29681566_29681567del
  • NG_009057.1:g.83011_83012del
  • NM_000268.4:c.1702_1703delMANE SELECT
  • NM_016418.5:c.1702_1703del
  • NM_181825.3:c.1702_1703del
  • NM_181828.3:c.1576_1577del
  • NM_181829.3:c.1579_1580del
  • NM_181830.3:c.1453_1454del
  • NM_181831.3:c.1453_1454del
  • NM_181832.3:c.1702_1703del
  • NM_181833.3:c.448-13186_448-13185del
  • NP_000259.1:p.Arg568fs
  • NP_057502.2:p.Arg568fs
  • NP_861546.1:p.Arg568fs
  • NP_861966.1:p.Arg526fs
  • NP_861967.1:p.Arg527fs
  • NP_861968.1:p.Arg485fs
  • NP_861969.1:p.Arg485fs
  • NP_861970.1:p.Arg568fs
  • LRG_511t1:c.1702_1703del
  • LRG_511t2:c.1702_1703del
  • LRG_511:g.83011_83012del
  • LRG_511p2:p.Arg568fs
  • NC_000022.10:g.30077555_30077556del
  • NM_000268.3:c.1702_1703del
  • NM_000268.3:c.1702_1703delAG
  • NR_156186.2:n.2184_2185del
Protein change:
R485fs
Links:
dbSNP: rs755032702
NCBI 1000 Genomes Browser:
rs755032702
Molecular consequence:
  • NM_000268.4:c.1702_1703del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_016418.5:c.1702_1703del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181825.3:c.1702_1703del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181828.3:c.1576_1577del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181829.3:c.1579_1580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181830.3:c.1453_1454del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181831.3:c.1453_1454del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181832.3:c.1702_1703del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181833.3:c.448-13186_448-13185del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_156186.2:n.2184_2185del - 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
SCV000948623Invitaecriteria provided, single submitter
Uncertain significance
(Nov 6, 2019)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

The landscape of genomic alterations across childhood cancers.

Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, Zipprich G, Heinold M, Eils J, Lawerenz C, Erkek S, Lambo S, Waszak S, et al.

Nature. 2018 Mar 15;555(7696):321-327. doi: 10.1038/nature25480. Epub 2018 Feb 28. Erratum in: Nature. 2018 Jul;559(7714):E10.

PubMed [citation]
PMID:
29489754

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]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000948623.3

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

Description

This sequence change results in a premature translational stop signal in the NF2 gene (p.Arg568Glyfs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 28 amino acids of the NF2 protein. This variant is present in population databases (rs755032702, ExAC 0.01%). This variant has been observed in an individual affected with medulloblastoma (PMID: 29489754). ClinVar contains an entry for this variant (Variation ID: 652858). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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

Last Updated: Nov 27, 2021

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