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NM_000268.4(NF2):c.648_649dup (p.Tyr217fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 27, 2020
Accession:
VCV001070353.1
Variation ID:
1070353
Description:
2bp duplication
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NM_000268.4(NF2):c.648_649dup (p.Tyr217fs)

Allele ID
1065012
Variant type
Duplication
Variant length
2 bp
Cytogenetic location
22q12.2
Genomic location
22: 29658235-29658236 (GRCh38) GRCh38 UCSC
22: 30054224-30054225 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.30054226_30054227dup
NC_000022.11:g.29658237_29658238dup
NG_009057.1:g.59682_59683dup
... more HGVS
Protein change
Y134fs, Y175fs, Y176fs, Y217fs
Other names
-
Canonical SPDI
NC_000022.11:29658235:TGT:TGTGT
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
Pathogenic 1 criteria provided, single submitter May 27, 2020 RCV001382466.1
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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
Pathogenic
(May 27, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001581240.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Tyr217Cysfs*4) in the NF2 gene. It is expected to result in an absent or disrupted protein … (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
Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. Ahronowitz I Human mutation 2007 PMID: 16983642
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. Evans DG Journal of medical genetics 1998 PMID: 9643284

Record last updated Nov 27, 2021