NM_000268.4(NF2):c.115-8101del AND Neurofibromatosis, type 2

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001356896.1

Allele description [Variation Report for NM_000268.4(NF2):c.115-8101del]

NM_000268.4(NF2):c.115-8101del

Gene:
NF2:neurofibromin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_000268.4(NF2):c.115-8101del
HGVS:
  • NC_000022.11:g.29628650del
  • NG_009057.1:g.30095del
  • NM_000268.4:c.115-8101delMANE SELECT
  • NM_016418.5:c.115-8101del
  • NM_181825.3:c.115-8101del
  • NM_181828.3:c.115-10440del
  • NM_181829.3:c.115-8101del
  • NM_181830.3:c.115-13552del
  • NM_181831.3:c.115-13552del
  • NM_181832.3:c.115-8101del
  • NM_181833.3:c.115-8101del
  • LRG_511t2:c.115-8101del
  • LRG_511:g.30095del
  • NC_000022.10:g.30024639del
Molecular consequence:
  • NM_000268.4:c.115-8101del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_016418.5:c.115-8101del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181825.3:c.115-8101del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181828.3:c.115-10440del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181829.3:c.115-8101del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181830.3:c.115-13552del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181831.3:c.115-13552del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181832.3:c.115-8101del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181833.3:c.115-8101del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001552179Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria providedUncertain significanceunknownclinical testing

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001552179.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The NF2 n.558-8delT variant was not identified in the literature no ClinVar database. The variant was identified in dbSNP (ID: rs5844863) database. The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, or the Genome Aggregation Database (March 6, 2019, v2.1.1). 

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

Last Updated: Apr 12, 2021

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