NM_000268.4(NF2):c.*2031_*2032dup AND Neurofibromatosis, type 2

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000310550.2

Allele description [Variation Report for NM_000268.4(NF2):c.*2031_*2032dup]

NM_000268.4(NF2):c.*2031_*2032dup

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.*2031_*2032dup
HGVS:
  • NC_000022.11:g.29696833_29696834dup
  • NG_009057.1:g.98278_98279dup
  • NM_000268.4:c.*2031_*2032dupMANE SELECT
  • NM_016418.5:c.*2091_*2092dup
  • NM_181828.3:c.*2091_*2092dup
  • NM_181829.3:c.*2091_*2092dup
  • NM_181830.3:c.*2091_*2092dup
  • NM_181832.3:c.*2106_*2107dup
  • NM_181833.3:c.*2031_*2032dup
  • LRG_511t2:c.*2091_*2092dup
  • LRG_511:g.98278_98279dup
  • NC_000022.10:g.30092822_30092823dup
  • NM_000268.3:c.*2031_*2032dupTT
  • NR_156186.2:n.4301_4302dup
Links:
dbSNP: rs11442202
NCBI 1000 Genomes Browser:
rs11442202
Molecular consequence:
  • NM_000268.4:c.*2031_*2032dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016418.5:c.*2091_*2092dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181828.3:c.*2091_*2092dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181829.3:c.*2091_*2092dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181830.3:c.*2091_*2092dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181832.3:c.*2106_*2107dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181833.3:c.*2031_*2032dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_156186.2:n.4301_4302dup - 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
SCV000437814Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000437814.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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