NM_000268.4(NF2):c.1613dup (p.Leu539fs) AND Neurofibromatosis, type 2

Clinical significance:Pathogenic (Last evaluated: Dec 15, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001523833.1

Allele description [Variation Report for NM_000268.4(NF2):c.1613dup (p.Leu539fs)]

NM_000268.4(NF2):c.1613dup (p.Leu539fs)

Gene:
NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_000268.4(NF2):c.1613dup (p.Leu539fs)
HGVS:
  • NC_000022.11:g.29681477dup
  • NG_009057.1:g.82922dup
  • NM_000268.4:c.1613dupMANE SELECT
  • NM_016418.5:c.1613dup
  • NM_181825.3:c.1613dup
  • NM_181828.3:c.1487dup
  • NM_181829.3:c.1490dup
  • NM_181830.3:c.1364dup
  • NM_181831.3:c.1364dup
  • NM_181832.3:c.1613dup
  • NM_181833.3:c.448-13275dup
  • NP_000259.1:p.Leu539fs
  • NP_057502.2:p.Leu539fs
  • NP_861546.1:p.Leu539fs
  • NP_861966.1:p.Leu497fs
  • NP_861967.1:p.Leu498fs
  • NP_861968.1:p.Leu456fs
  • NP_861969.1:p.Leu456fs
  • NP_861970.1:p.Leu539fs
  • LRG_511t2:c.1613dup
  • LRG_511:g.82922dup
  • LRG_511p2:p.Leu539fs
  • NC_000022.10:g.30077466dup
  • NM_000268.4:c.1613dupAMANE SELECT
  • NR_156186.2:n.2095dup
Protein change:
L456fs
Molecular consequence:
  • NM_000268.4:c.1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_016418.5:c.1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181825.3:c.1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181828.3:c.1487dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181829.3:c.1490dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181830.3:c.1364dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181831.3:c.1364dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181832.3:c.1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181833.3:c.448-13275dup - intron variant - [Sequence Ontology: SO:0001627]
  • NR_156186.2:n.2095dup - 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
SCV001478140Department of Pediatrics,Memorial Sloan Kettering Cancer Centercriteria provided, single submitter
Pathogenic
(Dec 15, 2020)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, et al.

JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137. Erratum in: JAMA. 2018 Dec 11;320(22):2381.

PubMed [citation]
PMID:
28873162
PMCID:
PMC5611881

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Pediatrics,Memorial Sloan Kettering Cancer Center, SCV001478140.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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