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NM_000268.4(NF2):c.1702_1703del (p.Arg568fs)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 6, 2019
Accession:
VCV000652858.3
Variation ID:
652858
Description:
2bp deletion
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NM_000268.4(NF2):c.1702_1703del (p.Arg568fs)

Allele ID
649366
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
22q12.2
Genomic location
22: 29681566-29681567 (GRCh38) GRCh38 UCSC
22: 30077555-30077556 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000268.3:c.1702_1703delAG frameshift
NC_000022.10:g.30077555_30077556del
LRG_511:g.83011_83012del
... more HGVS
Protein change
R527fs, R568fs, R485fs, R526fs
Other names
-
Canonical SPDI
NC_000022.11:29681565:AG:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs755032702
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 criteria provided, single submitter Nov 6, 2019 RCV000808513.3
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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
984 1016

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 06, 2019)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000948623.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change results in a premature translational stop signal in the NF2 gene (p.Arg568Glyfs*10). While this is not anticipated to result in nonsense mediated … (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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Title Author Journal Year Link
The landscape of genomic alterations across childhood cancers. Gröbner SN Nature 2018 PMID: 29489754

Text-mined citations for rs755032702...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 30, 2021