NM_000268.4(NF2):c.*2007del 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:
RCV000312724.2

Allele description [Variation Report for NM_000268.4(NF2):c.*2007del]

NM_000268.4(NF2):c.*2007del

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.*2007del
HGVS:
  • NC_000022.11:g.29696809del
  • NG_009057.1:g.98254del
  • NM_000268.4:c.*2007delMANE SELECT
  • NM_016418.5:c.*2067del
  • NM_181828.3:c.*2067del
  • NM_181829.3:c.*2067del
  • NM_181830.3:c.*2067del
  • NM_181832.3:c.*2082del
  • NM_181833.3:c.*2007del
  • LRG_511t2:c.*2067del
  • LRG_511:g.98254del
  • NC_000022.10:g.30092798del
  • NM_000268.3:c.*2007delT
  • NR_156186.2:n.4277del
Links:
dbSNP: rs886057365
NCBI 1000 Genomes Browser:
rs886057365
Molecular consequence:
  • NM_000268.4:c.*2007del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016418.5:c.*2067del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181828.3:c.*2067del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181829.3:c.*2067del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181830.3:c.*2067del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181832.3:c.*2082del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181833.3:c.*2007del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_156186.2:n.4277del - 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
SCV000437808Illumina 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, SCV000437808.2

#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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