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

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 31, 2021)
Accession:
VCV001050057.1
Variation ID:
1050057
Description:
1bp deletion
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NM_000268.4(NF2):c.115-8101del

Allele ID
1038823
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29628628 (GRCh38) GRCh38 UCSC
22: 30024617 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.30024639del
NC_000022.11:g.29628650del
NM_000268.4:c.115-8101del MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:29628627:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided - RCV001356896.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NF2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
985 1017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001552179.1
Submitted: (Mar 31, 2021)
Evidence details
Comment:
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 … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Apr 12, 2021